Medizinische Universität Graz - Research portal

Navigation/Search

• Researchers.
  • Curriculum.
  • Publications.
  • Projects.
  • Presentations.
  • Advised theses.
• Institutions.
• Projects.
• Publications.
• Partners.
• Sponsors.
• Equipment.
• Knowhow.
• Fields of Research.

Plecko Barbara |

** = Publications listed in SCI/SSCI/Pubmed

2025

Full paper/article (Journal)

** Zandl-Lang, M; Züllig, T; Holzer, M; Eichmann, TO; Darnhofer, B; Schwerin-Nagel, A; Zobel, J; Haidl, H; Biebl, A; Köfeler, H; Plecko, B Multi-omics profiling in spinal muscular atrophy (SMA): investigating lipid and metabolic alterations through longitudinal CSF analysis of Nusinersen-treated patients.
J Neurol. 2025; 272(3): 183 Doi: 10.1007/s00415-025-12909-4 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Short report/Letter

** De, Liso, P; Webster, R; Plecko, B; Vigevano, F Hepatocellular carcinoma in two unrelated patients with PNPO deficiency Epilepsy: A risk of long-term pyridoxal-5'-phosphate therapy?
Eur J Paediatr Neurol. 2025; 56:104-106 Doi: 10.1016/j.ejpn.2025.05.002
Web of Science PubMed FullText FullText_MUG

 

Review

** Plecko, B Inherited disorders of vitamin metabolism.
Eur J Paediatr Neurol. 2025; 55:18-32 Doi: 10.1016/j.ejpn.2025.02.008
Web of Science PubMed FullText FullText_MUG

 

2024

Full paper/article (Journal)

** Sun, M; Kaminsky, CK; Deppe, P; Ilse, MB; Vaz, FM; Plecko, B; Lübke, T; Randolph, LM A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis.
Genes Dis. 2024; 11(3): 101025 Doi: 10.1016/j.gendis.2023.06.003 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Weiß, C; Becker, LL; Friese, J; Blaschek, A; Hahn, A; Illsinger, S; Schwartz, O; Bernert, G; Hagen, MV; Husain, RA; Goldhahn, K; Kirschner, J; Pechmann, A; Flotats-Bastardas, M; Schreiber, G; Schara, U; Plecko, B; Trollmann, R; Horber, V; Wilichowski, E; Baumann, M; Klein, A; Eisenkölbl, A; Köhler, C; Stettner, GM; Cirak, S; Hasselmann, O; Kaindl, AM; Garbade, SF; Johannsen, J; Ziegler, A, , SMArtCARE, and, Swiss-Reg-NMD, study, group Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study.
Lancet Reg Health Eur. 2024; 47: 101092 Doi: 10.1016/j.lanepe.2024.101092 [OPEN ACCESS]
PubMed FullText FullText_MUG

 

** Weiss, C; Becker, LL; Friese, J; Blaschek, A; Hahn, A; Illsinger, S; Schwartz, O; Bernert, G; von der Hagen, M; Husain, RA; Goldhahn, K; Kirschner, J; Pechmann, A; Flotats-Bastardas, M; Schreiber, G; Schara, U; Plecko, B; Trollmann, R; Horber, V; Wilichowski, E; Baumann, M; Klein, A; Eisenkölbl, A; Köhler, C; Stettner, GM; Cirak, S; Hasselmann, O; Kaindl, AM; Garbade, SF; Johannsen, J; Ziegler, A Efficacy fi cacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study
LANCET REG HEALTH-EU. 2024; 47: 101092 Doi: 10.1016/j.lanepe.2024.101092
Web of Science FullText FullText_MUG

 

Abstract (Journal)

** De Liso, P; Webster, R; Plecko, B; Specchio, N; Vigevano, F Hepatocellular carcinoma in patients with PNPO deficiency treated with Pyridoxal-5'-Phosphate (PLP)
EPILEPSIA. 2024; 65: 412-412.
Web of Science

 

** Fritsch, M; Plecko, B; Seidel, MG; Verheyen, S; Fröhlich-Reiterer, E Hybrid closed loop therapy in an infant with postnatal onset of insulin dependent mitochondrial diabetes due to Pearson syndrome
HORM RES PAEDIAT. Abstracts. 2024; 97: 314-314.-50th ISPAD Annual Conference; OCT 16-19, 2024; Lisbon, PORTUGAL. [Poster]
Web of Science

 

2023

Full paper/article (Journal)

** Boy, N; Mühlhausen, C; Maier, EM; Ballhausen, D; Baumgartner, MR; Beblo, S; Burgard, P; Chapman, KA; Dobbelaere, D; Heringer-Seifert, J; Fleissner, S; Grohmann-Held, K; Hahn, G; Harting, I; Hoffmann, GF; Jochum, F; Karall, D; Konstantopoulous, V; Krawinkel, MB; Lindner, M; Märtner, EMC; Nuoffer, JM; Okun, JG; Plecko, B; Posset, R; Sahm, K; Scholl-Bürgi, S; Thimm, E; Walter, M; Williams, M; Vom, Dahl, S; Ziagaki, A; Zschocke, J; Kölker, S Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
J Inherit Metab Dis. 2023; 46(3):482-519 Doi: 10.1002/jimd.12566
Web of Science PubMed FullText FullText_MUG

 

** Crowther, LM; Poms, M; Zandl-Lang, M; Abela, L; Hartmann, H; Seiler, M; Mathis, D; Plecko, B Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy.
J Inherit Metab Dis. 2023; 46(1): 129-142. Doi: 10.1002/jimd.12569 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Dohr, KA; Tokic, S; Gastager-Ehgartner, M; Stojakovic, T; Dumic, M; Plecko, B; Dumic, KK Two Single Nucleotide Deletions in the ABCD1 Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy.
Int J Mol Sci. 2023; 24(6): 5957 Doi: 10.3390/ijms24065957 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Kalser, J; Giuliano, F; Peralta, M; Plecko, B; Bolsterli, BK Infantile Spasms without Hypsarrhythmia and Paroxysmal Eye-Head Movements in an Infant with a Pyridoxine-Dependent Epilepsy due to PLPBP/ PLPHP Deficiency
NEUROPEDIATRICS. 2023; Doi: 10.1055/a-2003-9886
Web of Science PubMed FullText FullText_MUG

 

Short report/Letter

** Indelicato, E; Boesch, S; Baumgartner, M; Plecko, B; Winkelmann, J; Zech, M Confirmation of a Causal Role for SHQ1 Variants in Early Infantile-Onset Recessive Dystonia.
Mov Disord. 2023; 38(2):355-357 Doi: 10.1002/mds.29281
Web of Science PubMed FullText FullText_MUG

 

Review

** Plecko, B On pathways and blind alleys-The importance of biomarkers in vitamin B-6-dependent epilepsies
J INHERIT METAB DIS. 2023; Doi: 10.1002/jimd.12655
Web of Science PubMed FullText FullText_MUG

 

** Zandl-Lang, M; Plecko, B; Köfeler, H Lipidomics-Paving the Road towards Better Insight and Precision Medicine in Rare Metabolic Diseases.
Int J Mol Sci. 2023; 24(2): Doi: 10.3390/ijms24021709 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

2022

Full paper/article (Journal)

** Ramoser, G; Caferri, F; Radlinger, B; Brunner-Krainz, M; Herbst, S; Huemer, M; Hufgard-Leitner, M; Kircher, SG; Konstantopoulou, V; Löscher, W; Möslinger, D; Plecko, B; Spenger, J; Stulnig, T; Sunder-Plassmann, G; Wortmann, S; Scholl-Bürgi, S; Karall, D, , Austrian, IMD, Registry, Group 100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021.
J Inherit Metab Dis. 2021; Doi: 10.1002/jimd.12442 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Skorvanek, M; Rektorova, I; Mandemakers, W; Wagner, M; Steinfeld, R; Orec, L; Han, V; Pavelekova, P; Lackova, A; Kulcsarova, K; Ostrozovicova, M; Gdovinova, Z; Plecko, B; Brunet, T; Berutti, R; Kuipers, DJS; Boumeester, V; Havrankova, P; Tijssen, MAJ; Kaiyrzhanov, R; Rizig, M; Houlden, H; Winkelmann, J; Bonifati, V; Zech, M; Jech, R WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia.
Parkinsonism Relat Disord. 2021; 94: 54-61. Doi: 10.1016/j.parkreldis.2021.11.030
Web of Science PubMed FullText FullText_MUG

 

** Verheyen, S; Blatterer, J; Speicher, MR; Bhavani, GS; Boons, GJ; Ilse, MB; Andrae, D; Sproß, J; Vaz, FM; Kircher, SG; Posch-Pertl, L; Baumgartner, D; Lübke, T; Shah, H; Al, Kaissi, A; Girisha, KM; Plecko, B Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency.
J Med Genet. 2022; 59(10):957-964 Doi: 10.1136/jmedgenet-2021-108061 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Vogt, G; Verheyen, S; Schwartzmann, S; Ehmke, N; Potratz, C; Schwerin-Nagel, A; Plecko, B; Holtgrewe, M; Seelow, D; Blatterer, J; Speicher, MR; Kornak, U; Horn, D; Mundlos, S; Fischer-Zirnsak, B; Boschann, F Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.
J Med Genet. 2022; 59(7):662-668 Doi: 10.1136/jmedgenet-2021-107843 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Weiß, C; Ziegler, A; Becker, LL; Johannsen, J; Brennenstuhl, H; Schreiber, G; Flotats-Bastardas, M; Stoltenburg, C; Hartmann, H; Illsinger, S; Denecke, J; Pechmann, A; Müller-Felber, W; Vill, K; Blaschek, A; Smitka, M; van, der, Stam, L; Weiss, K; Winter, B; Goldhahn, K; Plecko, B; Horber, V; Bernert, G; Husain, RA; Rauscher, C; Trollmann, R; Garbade, SF; Hahn, A; von, der, Hagen, M; Kaindl, AM Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study.
Lancet Child Adolesc Health. 2022; 6(1): 17-27. Doi: 10.1016/S2352-4642(21)00287-X
Web of Science PubMed FullText FullText_MUG

 

** Zandl-Lang, M; Züllig, T; Trötzmüller, M; Naegelin, Y; Abela, L; Wilken, B; Scholl-Buergi, S; Karall, D; Kappos, L; Köfeler, H; Plecko, B Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome.
Metabolites. 2022; 12(4): 291 Doi: 10.3390/metabo12040291 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Case Report

** Berghold, VM; Koko, M; Berutti, R; Plecko, B Case report: Novel SCN4A variant associated with a severe congenital myasthenic syndrome/myopathy phenotype.
Front Pediatr. 2022; 10: 944784 Doi: 10.3389/fped.2022.944784 (- Case Report) [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Raimann, A; Haberler, C; Patsch, J; Ertl, DA; Sadeghi, K; Freilinger, M; Lang, S; Schmook, M; Plecko, B; Haeusler, G Lethal Encephalopathy in an Infant with Hypophosphatasia despite Enzyme Replacement Therapy.
Horm Res Paediatr. 2021; 94(9-10): 390-398. Doi: 10.1159/000520341 (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

2021

Full paper/article (Journal)

** Beghini, M; Resch, FJ; Moslinger, D; Konstantopoulou, V; Karall, D; Scholl-Burgi, S; Brunner-Krainz, M; Plecko, B; Spenger, J; Kautzky-Willer, A; Scherer, T; Hufgard-Leitner, M Project & ldquo;Backtoclinic I & rdquo;: An overview on the state of care of adult PKU patients in Austria
MOL GENET METAB. 2021; 133(3): 257-260. Doi: 10.1016/j.ymgme.2021.05.003
Web of Science PubMed FullText FullText_MUG

 

** Coughlin, CR; Tseng, LA; Abdenur, JE; Ashmore, C; Boemer, F; Bok, LA; Boyer, M; Buhas, D; Clayton, PT; Das, A; Dekker, H; Evangeliou, A; Feillet, F; Footitt, EJ; Gospe, SM; Hartmann, H; Kara, M; Kristensen, E; Lee, J; Lilje, R; Longo, N; Lunsing, RJ; Mills, P; Papadopoulou, MT; Pearl, PL; Piazzon, F; Plecko, B; Saini, AG; Santra, S; Sjarif, DR; Stockler-Ipsiroglu, S; Striano, P; Van Hove, JLK; Verhoeven-Duif, NM; Wijburg, FA; Zuberi, SM; van Karnebeek, CDM Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis. 2021; 44(1):178-192 Doi: 10.1002/jimd.12332
Web of Science PubMed FullText FullText_MUG

 

** Gefferie, SR; Maric, A; Critelli, H; Gueden, S; Kurlemann, G; Kurth, S; Nosadini, M; Plecko, B; Ringli, M; Rostasy, K; Sartori, S; Schmitt, B; Suppiej, A; Van Bogaert, P; Wehrle, FM; Huber, R; Bolsterli, BK Altered EEG markers of synaptic plasticity in a human model of NMDA receptor deficiency: Anti-NMDA receptor encephalitis
NEUROIMAGE. 2021; 239: 118281 Doi: 10.1016/j.neuroimage.2021.118281
Web of Science PubMed FullText FullText_MUG

 

** Hady-Cohen, R; Dragoumi, P; Barca, D; Plecko, B; Lerman-Sagie, T; Zafeiriou, D Safety and recommendations for vaccinations of children with inborn errors of metabolism
EUR J PAEDIATR NEURO. 2021; 35: 93-99. Doi: 10.1016/j.ejpn.2021.10.002
Web of Science PubMed FullText FullText_MUG

 

** Herle, M; Brunner-Krainz, M; Karall, D; Goeschl, B; Moslinger, D; Zobel, J; Plecko, B; Scholl-Burgi, S; Spenger, J; Wortmann, SB; Huemer, M A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria
ORPHANET J RARE DIS. 2021; 16(1): 367 Doi: 10.1186/s13023-021-01996-x [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Lenaerts, L; Reynhout, S; Verbinnen, I; Laumonnier, F; Toutain, A; Bonnet-Brilhault, F; Hoorne, Y; Joss, S; Chassevent, AK; Smith-Hicks, C; Loeys, B; Joset, P; Steindl, K; Rauch, A; Mehta, SG; Chung, WK; Devriendt, K; Holder, SE; Jewett, T; Baldwin, LM; Wilson, WG; Towner, S; Srivastava, S; Johnson, HF; Daumer-Haas, C; Baethmann, M; Ruiz, A; Gabau, E; Jain, V; Varghese, V; Al-Beshri, A; Fulton, S; Wechsberg, O; Orenstein, N; Prescott, K; Childs, AM; Faivre, L; Moutton, S; Sullivan, JA; Shashi, V; Koudijs, SM; Heijligers, M; Kivuva, E; McTague, A; Male, A; van Ierland, Y; Plecko, B; Maystadt, I; Hamid, R; Hannig, VL; Houge, G; Janssens, V The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Genet Med. 2021; 23(2):352-362 Doi: 10.1038/s41436-020-00981-2 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Mathis, T; Poms, M; Kofeler, H; Gautschi, M; Plecko, B; Baumgartner, MR; Hochuli, M Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I
J INHERIT METAB DIS. 2021; Doi: 10.1002/jimd.12451 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Pelletier, F; Perrier, S; Cayami, FK; Mirchi, A; Saikali, S; Tran, LT; Ulrick, N; Guerrero, K; Rampakakis, E; van Spaendonk, RML; Naidu, S; Pohl, D; Gibson, WT; Demos, M; Goizet, C; Tejera-Martin, I; Potic, A; Fogel, BL; Brais, B; Sylvain, M; Sébire, G; Lourenço, CM; Bonkowsky, JL; Catsman-Berrevoets, C; Pinto, PS; Tirupathi, S; Strømme, P; de Grauw, T; Gieruszczak-Bialek, D; Krägeloh-Mann, I; Mierzewska, H; Philippi, H; Rankin, J; Atik, T; Banwell, B; Benko, WS; Blaschek, A; Bley, A; Boltshauser, E; Bratkovic, D; Brozova, K; Cimas, I; Clough, C; Corenblum, B; Dinopoulos, A; Dolan, G; Faletra, F; Fernandez, R; Fletcher, J; Garcia Garcia, ME; Gasparini, P; Gburek-Augustat, J; Gonzalez Moron, D; Hamati, A; Harting, I; Hertzberg, C; Hill, A; Hobson, GM; Innes, AM; Kauffman, M; Kirwin, SM; Kluger, G; Kolditz, P; Kotzaeridou, U; La Piana, R; Liston, E; McClintock, W; McEntagart, M; McKenzie, F; Melançon, S; Misbahuddin, A; Suri, M; Monton, FI; Moutton, S; Murphy, RPJ; Nickel, M; Onay, H; Orcesi, S; Özkınay, F; Patzer, S; Pedro, H; Pekic, S; Pineda Marfa, M; Pizzino, A; Plecko, B; Poll-The, BT; Popovic, V; Rating, D; Rioux, MF; Rodriguez Espinosa, N; Ronan, A; Ostergaard, JR; Rossignol, E; Sanchez-Carpintero, R; Schossig, A; Senbil, N; Sønderberg Roos, LK; Stevens, CA; Synofzik, M; Sztriha, L; Tibussek, D; Timmann, D; Tonduti, D; van de Warrenburg, BP; Vázquez-López, M; Venkateswaran, S; Wasling, P; Wassmer, E; Webster, RI; Wiegand, G; Yoon, G; Rotteveel, J; Schiffmann, R; van der Knaap, MS; Vanderver, A; Martos-Moreno, GÁ; Polychronakos, C; Wolf, NI; Bernard, G Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
J CLIN ENDOCR METAB. 2021; 106(2): e660-e674-e660-e674. Doi: 10.1210/clinem/dgaa700 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Plecko, B Diagnostic work-up of impaired consciousness in infants, children and adolescents
MONATSSCHR KINDERH. 2021; Doi: 10.1007/s00112-020-01097-2 [OPEN ACCESS]
Web of Science FullText FullText_MUG

 

** Schneeberger, PE; Nampoothiri, S; Holling, T; Yesodharan, D; Alawi, M; Knisely, AS; Müller, T; Plecko, B; Janecke, AR; Kutsche, K Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis.
BRAIN. 2021; 144(10): 3036-3049. Doi: 10.1093/brain/awab206 (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

Review

** Korinthenberg, R; Trollmann, R; Plecko, B; Stettner, GM; Blankenburg, M; Weis, J; Schoser, B; Muller-Felber, W; Lochbuehler, N; Hahn, G; Rudnik-Schoneborn, S Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents-Consensus-Based Practice Guidelines
CHILDREN-BASEL. 2021; 8(8): 687 Doi: 10.3390/children8080687 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Editorial

** Plecko, B Why child neurologists should have vitamine B-6 in their pockets
EUR J PAEDIATR NEURO. 2021; 33: A5-A6. Doi: 10.1016/j.ejpn.2021.07.007
Web of Science PubMed FullText FullText_MUG

 

Case Report

** Papadopoulou, MT; Dalpa, E; Portokalas, M; Katsanika, I; Tirothoulaki, K; Spilioti, M; Gerou, S; Plecko, B; Evangeliou, AE Cerebral folate deficiency in two siblings caused by biallelic variants including a novel mutation of FOLR1 gene: Intrafamilial heterogeneity following early treatment and the role of ketogenic diet.
JIMD Rep. 2021; 60(1): 3-9. Doi: 10.1002/jmd2.12206 (- Case Report) [OPEN ACCESS]
PubMed FullText FullText_MUG

 

Comment

** Plecko, B TPK1 Deficiency-A Vitamin-Responsive Encephalopathy with a Suggestive MRI Pattern.
NEUROPEDIATRICS. 2021; 52(2): 69-70. Doi: 10.1055/s-0041-1725949
Web of Science PubMed FullText FullText_MUG

 

2020

Full paper/article (Journal)

** Boehm, T; Hubmann, H; Petroczi, K; Mathis, D; Klavins, K; Fauler, G; Plecko, B; Struys, E; Jilma, B Condensation of delta-1-piperideine-6-carboxylate with ortho-aminobenzaldehyde allows its simple, fast, and inexpensive quantification in the urine of patients with antiquitin deficiency.
J Inherit Metab Dis. 2020; 43(4):891-900 Doi: 10.1002/jimd.12214 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Marinschek, S; Pahsini, K; Aguiriano-Moser, V; Russell, M; Plecko, B; Reininghaus, EZ; Till, H; Dunitz-Scheer, M Efficacy of a standardized tube weaning program in pediatric patients with feeding difficulties after successful repair of their esophageal atresia/tracheoesophageal fistula.
Eur J Pediatr. 2020; 179(11):1729-1737 Doi: 10.1007/s00431-020-03673-w [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Mathis, D; Beese, K; Rüegg, C; Plecko, B; Hersberger, M LC-MS/MS method for the differential diagnosis of treatable early onset inherited metabolic epilepsies.
J Inherit Metab Dis. 2020; 43(5):1102-1111 Doi: 10.1002/jimd.12244
Web of Science PubMed FullText FullText_MUG

 

** Pechmann, A; Baumann, M; Bernert, G; Flotats-Bastardas, M; Gruber-Sedlmayr, U; von der Hagen, M; Hasselmann, O; Hobbiebrunken, E; Horber, V; Johannsen, J; Kellersmann, A; Köhler, C; von Moers, A; Müller-Felber, W; Plecko, B; Reihle, C; Schlachter, K; Schreiber, G; Schwartz, O; Smitka, M; Steiner, E; Stoltenburg, C; Stüve, B; Theophil, M; Weiß, C; Wiegand, G; Wilichowski, E; Winter, B; Wittmann, W; Schara, U; Kirschner, J Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1.
J Neuromuscul Dis. 2020; 7(1): 41-46. Doi: 10.3233/JND-190441
Web of Science PubMed FullText FullText_MUG

 

** Rozmarič, T; Mitulović, G; Konstantopoulou, V; Goeschl, B; Huemer, M; Plecko, B; Spenger, J; Wortmann, SB; Scholl-Bürgi, S; Karall, D; Greber-Platzer, S; Zeyda, M Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns.
Diagnostics (Basel). 2020; 10(9): Doi: 10.3390/diagnostics10090626 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Steel, D; Zech, M; Zhao, C; Barwick, KES; Burke, D; Demailly, D; Kumar, KR; Zorzi, G; Nardocci, N; Kaiyrzhanov, R; Wagner, M; Iuso, A; Berutti, R; Škorvánek, M; Necpál, J; Davis, R; Wiethoff, S; Mankad, K; Sudhakar, S; Ferrini, A; Sharma, S; Kamsteeg, EJ; Tijssen, MA; Verschuuren, C; van Egmond, ME; Flowers, JM; McEntagart, M; Tucci, A; Coubes, P; Bustos, BI; Gonzalez-Latapi, P; Tisch, S; Darveniza, P; Gorman, KM; Peall, KJ; Bötzel, K; Koch, JC; Kmieć, T; Plecko, B; Boesch, S; Haslinger, B; Jech, R; Garavaglia, B; Wood, N; Houlden, H; Gissen, P; Lubbe, SJ; Sue, CM; Cif, L; Mencacci, NE; Anderson, G; Kurian, MA; Winkelmann, J; Genomics England Research Consortium Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Ann Neurol. 2020; 88(5):867-877 Doi: 10.1002/ana.25879 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Verheyen, S; Speicher, MR; Ramler, B; Plecko, B Childhood-onset epileptic encephalopathy due to FGF12 exon 1-4 tandem duplication.
Neurol Genet. 2020; 6(5): e494-e494. Doi: 10.1212/NXG.0000000000000494 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Zech, M; Jech, R; Boesch, S; Škorvánek, M; Weber, S; Wagner, M; Zhao, C; Jochim, A; Necpál, J; Dincer, Y; Vill, K; Distelmaier, F; Stoklosa, M; Krenn, M; Grunwald, S; Bock-Bierbaum, T; Fečíková, A; Havránková, P; Roth, J; Příhodová, I; Adamovičová, M; Ulmanová, O; Bechyně, K; Danhofer, P; Veselý, B; Haň, V; Pavelekova, P; Gdovinová, Z; Mantel, T; Meindl, T; Sitzberger, A; Schröder, S; Blaschek, A; Roser, T; Bonfert, MV; Haberlandt, E; Plecko, B; Leineweber, B; Berweck, S; Herberhold, T; Langguth, B; Švantnerová, J; Minár, M; Ramos-Rivera, GA; Wojcik, MH; Pajusalu, S; Õunap, K; Schatz, UA; Pölsler, L; Milenkovic, I; Laccone, F; Pilshofer, V; Colombo, R; Patzer, S; Iuso, A; Vera, J; Troncoso, M; Fang, F; Prokisch, H; Wilbert, F; Eckenweiler, M; Graf, E; Westphal, DS; Riedhammer, KM; Brunet, T; Alhaddad, B; Berutti, R; Strom, TM; Hecht, M; Baumann, M; Wolf, M; Telegrafi, A; Person, RE; Zamora, FM; Henderson, LB; Weise, D; Musacchio, T; Volkmann, J; Szuto, A; Becker, J; Cremer, K; Sycha, T; Zimprich, F; Kraus, V; Makowski, C; Gonzalez-Alegre, P; Bardakjian, TM; Ozelius, LJ; Vetro, A; Guerrini, R; Maier, E; Borggraefe, I; Kuster, A; Wortmann, SB; Hackenberg, A; Steinfeld, R; Assmann, B; Staufner, C; Opladen, T; Růžička, E; Cohn, RD; Dyment, D; Chung, WK; Engels, H; Ceballos-Baumann, A; Ploski, R; Daumke, O; Haslinger, B; Mall, V; Oexle, K; Winkelmann, J Monogenic variants in dystonia: an exome-wide sequencing study.
Lancet Neurol. 2020; 19(11):908-918 Doi: 10.1016/S1474-4422(20)30312-4 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Züllig, T; Zandl-Lang, M; Trötzmüller, M; Hartler, J; Plecko, B; Köfeler, HC A Metabolomics Workflow for Analyzing Complex Biological Samples Using a Combined Method of Untargeted and Target-List Based Approaches.
Metabolites. 2020; 10(9): Doi: 10.3390/metabo10090342 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

2019

Full paper/article (Journal)

** Begemann, A; Acuña, MA; Zweier, M; Vincent, M; Steindl, K; Bachmann-Gagescu, R; Hackenberg, A; Abela, L; Plecko, B; Kroell-Seger, J; Baumer, A; Yamakawa, K; Inoue, Y; Asadollahi, R; Sticht, H; Zeilhofer, HU; Rauch, A Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.
MOL MED. 2019; 25(1): 6-6. Doi: 10.1186/s10020-019-0073-6 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Boonsawat, P; Joset, P; Steindl, K; Oneda, B; Gogoll, L; Azzarello-Burri, S; Sheth, F; Datar, C; Verma, IC; Puri, RD; Zollino, M; Bachmann-Gagescu, R; Niedrist, D; Papik, M; Figueiro-Silva, J; Masood, R; Zweier, M; Kraemer, D; Lincoln, S; Rodan, L; Undiagnosed Diseases Network (UDN); Passemard, S; Drunat, S; Verloes, A; Horn, AHC; Sticht, H; Steinfeld, R; Plecko, B; Latal, B; Jenni, O; Asadollahi, R; Rauch, A Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
GENET MED. 2019; 21(9): 2043-2058. Doi: 10.1038/s41436-019-0464-7 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Crowther, LM; Mathis, D; Poms, M; Plecko, B New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiency.
J Inherit Metab Dis. 2019; 42(4):620-628 Doi: 10.1002/jimd.12076 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Papuc, SM; Abela, L; Steindl, K; Begemann, A; Simmons, TL; Schmitt, B; Zweier, M; Oneda, B; Socher, E; Crowther, LM; Wohlrab, G; Gogoll, L; Poms, M; Seiler, M; Papik, M; Baldinger, R; Baumer, A; Asadollahi, R; Kroell-Seger, J; Schmid, R; Iff, T; Schmitt-Mechelke, T; Otten, K; Hackenberg, A; Addor, MC; Klein, A; Azzarello-Burri, S; Sticht, H; Joset, P; Plecko, B; Rauch, A The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Eur J Hum Genet. 2019; 27(3):408-421 Doi: 10.1038/s41431-018-0299-8 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Rattay, TW; Lindig, T; Baets, J; Smets, K; Deconinck, T; Söhn, AS; Hörtnagel, K; Eckstein, KN; Wiethoff, S; Reichbauer, J; Döbler-Neumann, M; Krägeloh-Mann, I; Auer-Grumbach, M; Plecko, B; Münchau, A; Wilken, B; Janauschek, M; Giese, AK; De Bleecker, JL; Ortibus, E; Debyser, M; Lopez de Munain, A; Pujol, A; Bassi, MT; D'Angelo, MG; De Jonghe, P; Züchner, S; Bauer, P; Schöls, L; Schüle, R FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Brain. 2019; 142(6): 1561-1572. Doi: 10.1093/brain/awz102 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Sharkia, R; Wierenga, KJ; Kessel, A; Azem, A; Bertini, E; Carrozzo, R; Torraco, A; Goffrini, P; Ceccatelli Berti, C; McCormick, ME; Plecko, B; Klein, A; Abela, L; Hengel, H; Schöls, L; Shalev, S; Khayat, M; Mahajnah, M; Spiegel, R Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome.
J INHERIT METAB DIS. 2019; 42(2): 264-275. Doi: 10.1002/jimd.12022
Web of Science PubMed FullText FullText_MUG

 

** Zweier, M; Begemann, A; McWalter, K; Cho, MT; Abela, L; Banka, S; Behring, B; Berger, A; Brown, CW; Carneiro, M; Chen, J; Cooper, GM; Deciphering Developmental Disorders (DDD) Study; Finnila, CR; Guillen Sacoto, MJ; Henderson, A; Hüffmeier, U; Joset, P; Kerr, B; Lesca, G; Leszinski, GS; McDermott, JH; Meltzer, MR; Monaghan, KG; Mostafavi, R; Õunap, K; Plecko, B; Powis, Z; Purcarin, G; Reimand, T; Riedhammer, KM; Schreiber, JM; Sirsi, D; Wierenga, KJ; Wojcik, MH; Papuc, SM; Steindl, K; Sticht, H; Rauch, A Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.
Eur J Hum Genet. 2019; 27(5):747-759 Doi: 10.1038/s41431-018-0331-z [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Review

** Ramantani, G; Schmitt, B; Plecko, B; Pressler, RM; Wohlrab, G; Klebermass-Schrehof, K; Hagmann, C; Pisani, F; Boylan, GB Neonatal Seizures-Are We there Yet?
NEUROPEDIATRICS. 2019; 50(5): 280-293. Doi: 10.1055/s-0039-1693149 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Wilson, MP; Plecko, B; Mills, PB; Clayton, PT Disorders affecting vitamin B₆ metabolism.
J Inherit Metab Dis. 2019; 42(4):629-646 Doi: 10.1002/jimd.12060 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Abstract (Journal)

** Boonsawat, P; Joset, P; Steindl, K; Oneda, B; Gogoll, L; Azzarello-Burri, S; Sheth, F; Datar, C; Verma, I; Puri, RD; Zollino, M; Bachmann-Gagescu, R; Niedrist, D; Papik, M; Figueiro-Silva, J; Masood, R; Zweier, M; Kraemer, D; Lincoln, S; Rodan, L; Passemard, S; Drunat, S; Verloes, A; Horn, A; Sticht, H; Steinfeld, R; Plecko, B; Latal, B; Jenni, O; Asadollahi, R; Rauch, A Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly
EUR J HUM GENET. 2019; 27: 1401-1402.-52nd Conference of the European-Society-of-Human-Genetics (ESHG); JUN 15-18, 2019; Gothenburg, SWEDEN. [Oral Communication]
Web of Science

 

** Zweier, M; Begemann, A; McWalter, K; Cho, MT; Abela, L; Banka, S; Behring, B; Berger, A; Brown, CW; Carneiro, M; Chen, J; Cooper, GM; Finnila, CR; Sacoto, MJG; Henderson, A; Huffmeier, U; Joset, P; Kerr, B; Lesca, G; Leszinski, GS; McDermott, JH; Meltzer, MR; Monaghan, KG; Mostafavi, R; Ounap, K; Plecko, B; Powis, Z; Purcarin, G; Reimand, T; Riedhammer, KM; Schreiber, JM; Sirsi, D; Wierenga, KJ; Wojcik, MH; Papuc, SM; Steindl, K; Sticht, H; Rauch, A Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures
EUR J HUM GENET. 2019; 27: 1383-1384.-52nd Conference of the European-Society-of-Human-Genetics (ESHG); JUN 15-18, 2019; Gothenburg, SWEDEN. [Oral Communication]
Web of Science

 

2018

Full paper/article (Journal)

** Alfadhel, M; Nashabat, M; Alrifai, MT; Alshaalan, H; Al Mutairi, F; Al-Shahrani, SA; Plecko, B; Almass, R; Alsagob, M; Almutairi, FB; Al-Rumayyan, A; Al-Twaijri, W; Al-Owain, M; Taylor, RW; Kaya, N Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.
Eur J Paediatr Neurol. 2018; 22(1): 46-55. Doi: 10.1016/j.ejpn.2017.10.003
Web of Science PubMed FullText FullText_MUG

 

** de Rooy, RLP; Halbertsma, FJ; Struijs, EA; van Spronsen, FJ; Lunsing, RJ; Schippers, HM; van Hasselt, PM; Plecko, B; Wohlrab, G; Whalen, S; Benoist, JF; Valence, S; Mills, PB; Bok, LA Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?
Eur J Paediatr Neurol. 2018; 22(4): 662-666. Doi: 10.1016/j.ejpn.2018.03.009
Web of Science PubMed FullText FullText_MUG

 

** Hamilton, EMC; van der Lei, HDW; Vermeulen, G; Gerver, JAM; Lourenço, CM; Naidu, S; Mierzewska, H; Gemke, RJBJ; de Vet, HCW; Uitdehaag, BMJ; Lissenberg-Witte, BI; VWM Research Group; van der Knaap, MS Natural History of Vanishing White Matter.
Ann Neurol. 2018; 84(2):274-288 Doi: 10.1002/ana.25287 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Srinivasaraghavan, R; Parameswaran, N; Mathis, D; Bürer, C; Plecko, B Antiquitin Deficiency with Adolescent Onset Epilepsy: Molecular Diagnosis in a Mother of Affected Offsprings.
Neuropediatrics. 2018; 49(2):154-157 Doi: 10.1055/s-0037-1621721
Web of Science PubMed FullText FullText_MUG

 

** Winkler, A; Tölle, S; Natalucci, G; Plecko, B; Wisser, J Prognostic Features and Long-Term Outcome in Patients with Isolated Fetal Ventriculomegaly.
Fetal Diagn Ther. 2018; 44(3): 210-220. Doi: 10.1159/000480500 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Zimmermann, K; Cignacco, E; Engberg, S; Ramelet, AS; von der Weid, N; Eskola, K; Bergstraesser, E; PELICAN Consortium; Ansari, M; Aebi, C; Baer, R; Popovic, MB; Bernet, V; Brazzola, P; Bucher, HU; Buder, R; Cagnazzo, S; Dinten, B; Dorsaz, A; Elmer, F; Enriquez, R; Fahrni-Nater, P; Finkbeiner, G; Frey, B; Frey, U; Greiner, J; Hassink, RI; Keller, S; Kretschmar, O; Kroell, J; Laubscher, B; Leibundgut, K; Malaer, R; Meyer, A; Stuessi, C; Nelle, M; Neuhaus, T; Niggli, F; Perrenoud, G; Pfammatter, JP; Plecko, B; Rupf, D; Sennhauser, F; Stade, C; Steinlin, M; Stoffel, L; Thomas, K; Vonarburg, C; von Vigier, R; Wagner, B; Wieland, J; Wernz, B Patterns of paediatric end-of-life care: a chart review across different care settings in Switzerland.
BMC Pediatr. 2018; 18(1): 67-67. Doi: 10.1186/s12887-018-1021-2 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Review

** Crowther, LM; Poms, M; Plecko, B Multiomics tools for the diagnosis and treatment of rare neurological disease.
J INHERIT METAB DIS. 2018; 41(3): 425-434. Doi: 10.1007/s10545-018-0154-7 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Editorial

** Ebrahimi-Fakhari, D; Neubauer, B; Plecko, B; Wolf, NI Resident and Fellow Section in Neuropediatrics.
NEUROPEDIATRICS. 2018; 49(4): 229-230. Doi: 10.1055/s-0038-1666857 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

2017

Full paper/article (Journal)

** Abela, L; Spiegel, R; Crowther, LM; Klein, A; Steindl, K; Papuc, SM; Joset, P; Zehavi, Y; Rauch, A; Plecko, B; Simmons, TL Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency.
PLoS One. 2017; 12(5):e0176363-e0176363 Doi: 10.1371/journal.pone.0176363 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Haberlandt, E; Ensslen, M; Gruber-Sedlmayr, U; Plecko, B; Brunner-Krainz, M; Schimmel, M; Schubert-Bast, S; Neirich, U; Philippi, H; Kurleman, G; Tardieu, M; Wohlrab, G; Borggraefe, I; Rostásy, K Epileptic phenotypes, electroclinical features and clinical characteristics in 17 children with anti-NMDAR encephalitis.
Eur J Paediatr Neurol. 2017; 21(3):457-464 Doi: 10.1016/j.ejpn.2016.11.016
Web of Science PubMed FullText FullText_MUG

 

** Hackenberg, A; Boltshauser, E; Gerth-Kahlert, C; Stahr, N; Azzarello-Burri, S; Plecko, B Horizontal Gaze Palsy in Two Brothers with Compound Heterozygous ROBO3 Gene Mutations.
Neuropediatrics. 2017; 48(1): 57-58. Doi: 10.1055/s-0036-1597610 (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

** Hamilton, EMC; Bertini, E; Kalaydjieva, L; Morar, B; Dojčáková, D; Liu, J; Vanderver, A; Curiel, J; Persoon, CM; Diodato, D; Pinelli, L; van der Meij, NL; Plecko, B; Blaser, S; Wolf, NI; Waisfisz, Q; Abbink, TEM; van der Knaap, MS; Recessive H-ABC Research Group UFM1 founder mutation in the Roma population causes recessive variant of H-ABC.
Neurology. 2017; 89(17):1821-1828 Doi: 10.1212/WNL.0000000000004578 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Lauber, M; Plecko, B; Pfiffner, M; Nuoffer, JM; Häberle, J The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch-Nyhan Disease.
JIMD Rep. 2017; 32(6):51-57 Doi: 10.1007/8904_2016_571 [OPEN ACCESS]
PubMed FullText FullText_MUG

 

** Skrabl-Baumgartner, A; Plecko, B; Schmidt, WM; König, N; Hershfield, M; Gruber-Sedlmayr, U; Lee-Kirsch, MA Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation.
Pediatr Rheumatol Online J. 2017; 15(1): 67-67. Doi: 10.1186/s12969-017-0193-x (- Case Report) [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Editorial

** Plecko, B A Message to the Readers of Neuropediatrics.
Neuropediatrics. 2017; 48(1): 1-2. Doi: 10.1055/s-0036-1597985 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Wolf, NI; Plecko, B; Neubauer, BA Andrea Poretti-In Memoriam.
NEUROPEDIATRICS. 2017; 48(5): 323-324. Doi: 10.1055/s-0037-1606369 [OPEN ACCESS]
Web of Science FullText FullText_MUG

 

Case Report

** Plecko, B; Zweier, M; Begemann, A; Mathis, D; Schmitt, B; Striano, P; Baethmann, M; Vari, MS; Beccaria, F; Zara, F; Crowther, LM; Joset, P; Sticht, H; Papuc, SM; Rauch, A Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.
J Med Genet. 2017; 54(12): 809-814. Doi: 10.1136/jmedgenet-2017-104521 (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

2016

Full paper/article (Journal)

** Abela, L; Simmons, L; Steindl, K; Schmitt, B; Mastrangelo, M; Joset, P; Papuc, M; Sticht, H; Baumer, A; Crowther, LM; Mathis, D; Rauch, A; Plecko, B N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics.
J Inherit Metab Dis. 2016; 39(1): 131-137. Doi: 10.1007/s10545-015-9876-y [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Bartuzi, P; Billadeau, DD; Favier, R; Rong, S; Dekker, D; Fedoseienko, A; Fieten, H; Wijers, M; Levels, JH; Huijkman, N; Kloosterhuis, N; van der Molen, H; Brufau, G; Groen, AK; Elliott, AM; Kuivenhoven, JA; Plecko, B; Grangl, G; McGaughran, J; Horton, JD; Burstein, E; Hofker, MH; van de Sluis, B CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL.
Nat Commun. 2016; 7(5):10961-10961 Doi: 10.1038/ncomms10961 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Huemer, M; Mulder-Bleile, R; Burda, P; Froese, DS; Suormala, T; Zeev, BB; Chinnery, PF; Dionisi-Vici, C; Dobbelaere, D; Gökcay, G; Demirkol, M; Häberle, J; Lossos, A; Mengel, E; Morris, AA; Niezen-Koning, KE; Plecko, B; Parini, R; Rokicki, D; Schiff, M; Schimmel, M; Sewell, AC; Sperl, W; Spiekerkoetter, U; Steinmann, B; Taddeucci, G; Trejo-Gabriel-Galán, JM; Trefz, F; Tsuji, M; Vilaseca, MA; von Kleist-Retzow, JC; Walker, V; Zeman, J; Baumgartner, MR; Fowler, B Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
J Inherit Metab Dis. 2016; 39(1): 115-124. Doi: 10.1007/s10545-015-9860-6 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Mathis, D; Abela, L; Albersen, M; Bürer, C; Crowther, L; Beese, K; Hartmann, H; Bok, LA; Struys, E; Papuc, SM; Rauch, A; Hersberger, M; Verhoeven-Duif, NM; Plecko, B The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.
J Inherit Metab Dis. 2016; 39(5): 733-741. Doi: 10.1007/s10545-016-9955-8
Web of Science PubMed FullText FullText_MUG

 

** Meyer Sauteur, PM; Moeller, A; Relly, C; Berger, C; Plecko, B; Nadal, D; Swiss Pediatric Surveillance Unit (SPSU) Swiss national prospective surveillance of paediatric Mycoplasma pneumoniae-associated encephalitis.
Swiss Med Wkly. 2016; 146(1): w14222-w14222. Doi: 10.4414/smw.2016.14222 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Strzelczyk, A; Zschebek, G; Bauer, S; Baumgartner, C; Grond, M; Hermsen, A; Kieslich, M; Krämer, G; Kurlemann, G; May, TW; Mayer, T; Neubauer, BA; Pfäfflin, M; Plecko, B; Ryvlin, P; Schubert-Bast, S; Stefan, H; Trinka, E; Knake, S; Seifart, C; Rosenow, F Predictors of and attitudes toward counseling about SUDEP and other epilepsy risk factors among Austrian, German, and Swiss neurologists and neuropediatricians.
Epilepsia. 2016; 57(4): 612-620. Doi: 10.1111/epi.13337 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Editorial

** Neubauer, B; Plecko, B; Boltshauser, E A Message to the Readers of Neuropediatrics.
Neuropediatrics. 2016; 47(1): 1-2. Doi: 10.1055/s-0035-1571260 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

2015

Full paper/article (Journal)

** Ahting, U; Mayr, JA; Vanlander, AV; Hardy, SA; Santra, S; Makowski, C; Alston, CL; Zimmermann, FA; Abela, L; Plecko, B; Rohrbach, M; Spranger, S; Seneca, S; Rolinski, B; Hagendorff, A; Hempel, M; Sperl, W; Meitinger, T; Smet, J; Taylor, RW; Van Coster, R; Freisinger, P; Prokisch, H; Haack, TB Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.
Front Genet. 2015; 6(14): 123-123. Doi: 10.3389/fgene.2015.00123 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Huemer, M; Bürer, C; Ješina, P; Kožich, V; Landolt, MA; Suormala, T; Fowler, B; Augoustides-Savvopoulou, P; Blair, E; Brennerova, K; Broomfield, A; De Meirleir, L; Gökcay, G; Hennermann, J; Jardine, P; Koch, J; Lorenzl, S; Lotz-Havla, AS; Noss, J; Parini, R; Peters, H; Plecko, B; Ramos, FJ; Schlune, A; Tsiakas, K; Zerjav Tansek, M; Baumgartner, MR Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.
J Inherit Metab Dis. 2015; 38(5):957-967 Doi: 10.1007/s10545-014-9803-7
Web of Science PubMed FullText FullText_MUG

 

** Karall, D; Brunner-Krainz, M; Kogelnig, K; Konstantopoulou, V; Maier, EM; Möslinger, D; Plecko, B; Sperl, W; Volkmar, B; Scholl-Bürgi, S Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD).
Orphanet J Rare Dis. 2015; 10(1): 21-21. Doi: 10.1186/s13023-015-0236-7 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Kolanczyk, M; Krawitz, P; Hecht, J; Hupalowska, A; Miaczynska, M; Marschner, K; Schlack, C; Emmerich, D; Kobus, K; Kornak, U; Robinson, PN; Plecko, B; Grangl, G; Uhrig, S; Mundlos, S; Horn, D Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Eur J Hum Genet. 2015; 23(5):633-638 Doi: 10.1038/ejhg.2014.109 (- Case Report) [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Mefford, HC; Zemel, M; Geraghty, E; Cook, J; Clayton, PT; Paul, K; Plecko, B; Mills, PB; Nordli, DR; Gospe, SM Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.
NEUROLOGY. 2015; 85(9): 756-762. Doi: 10.1212/WNL.0000000000001883 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Vodopiutz, J; Schmook, MT; Konstantopoulou, V; Plecko, B; Greber-Platzer, S; Creus, M; Seidl, R; Janecke, AR MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy.
Eur J Pediatr. 2015; 174(1): 113-118. Doi: 10.1007/s00431-014-2463-7
Web of Science PubMed FullText FullText_MUG

 

Review

** Campistol, J; Plecko, B Treatable newborn and infant seizures due to inborn errors of metabolism.
Epileptic Disord. 2015; 17(3): 229-242. Doi: 10.1684/epd.2015.0754 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Correction

** Kolanczyk, M; Krawitz, P; Hecht, J; Hupalowska, A; Miaczynska, M; Marschner, K; Schlack, C; Emmerich, D; Kobus, K; Kornak, U; Robinson, PN; Plecko, B; Grangl, G; Uhrig, S; Mundlos, S; Horn, D Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Eur J Hum Genet. 2015; 23(5):720-720 Doi: 10.1038/ejhg.2014.278 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Comment

** Plecko, B Honorary Award of the German-Speaking Child Neurology Society - Gesellschaft für Neuropädiatrie - 2015.
Neuropediatrics. 2015; 46(4): 233-233. Doi: 10.1055/s-0035-1558422 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

2014

Full paper/article (Journal)

** Abela, L; Plecko, B; Palla, A; Burda, P; Nuoffer, JM; Ballhausen, D; Rohrbach, M Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.
Orphanet J Rare Dis. 2014; 9(1): 176-176. Doi: 10.1186/s13023-014-0176-7 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Asadollahi, R; Oneda, B; Joset, P; Azzarello-Burri, S; Bartholdi, D; Steindl, K; Vincent, M; Cobilanschi, J; Sticht, H; Baldinger, R; Reissmann, R; Sudholt, I; Thiel, CT; Ekici, AB; Reis, A; Bijlsma, EK; Andrieux, J; Dieux, A; FitzPatrick, D; Ritter, S; Baumer, A; Latal, B; Plecko, B; Jenni, OG; Rauch, A The clinical significance of small copy number variants in neurodevelopmental disorders.
J Med Genet. 2014; 51(10): 677-688. Doi: 10.1136/jmedgenet-2014-102588 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Haack, TB; Gorza, M; Danhauser, K; Mayr, JA; Haberberger, B; Wieland, T; Kremer, L; Strecker, V; Graf, E; Memari, Y; Ahting, U; Kopajtich, R; Wortmann, SB; Rodenburg, RJ; Kotzaeridou, U; Hoffmann, GF; Sperl, W; Wittig, I; Wilichowski, E; Schottmann, G; Schuelke, M; Plecko, B; Stephani, U; Strom, TM; Meitinger, T; Prokisch, H; Freisinger, P Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
Mol Genet Metab. 2014; 111(3): 342-352. Doi: 10.1016/j.ymgme.2013.12.010
Web of Science PubMed FullText FullText_MUG

 

** Hackenberg, A; Baumer, A; Sticht, H; Schmitt, B; Kroell-Seger, J; Wille, D; Joset, P; Papuc, S; Rauch, A; Plecko, B Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene.
Neuropediatrics. 2014; 45(4): 261-264. Doi: 10.1055/s-0034-1372302 (- Case Report) [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Mills, PB; Camuzeaux, SS; Footitt, EJ; Mills, KA; Gissen, P; Fisher, L; Das, KB; Varadkar, SM; Zuberi, S; McWilliam, R; Stödberg, T; Plecko, B; Baumgartner, MR; Maier, O; Calvert, S; Riney, K; Wolf, NI; Livingston, JH; Bala, P; Morel, CF; Feillet, F; Raimondi, F; Del Giudice, E; Chong, WK; Pitt, M; Clayton, PT Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
Brain. 2014; 137(Pt 5): 1350-1360. Doi: 10.1093/brain/awu051 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Plecko, B; Paul, K; Mills, P; Clayton, P; Paschke, E; Maier, O; Hasselmann, O; Schmiedel, G; Kanz, S; Connolly, M; Wolf, N; Struys, E; Stockler, S; Abela, L; Hofer, D Pyridoxine responsiveness in novel mutations of the PNPO gene.
Neurology. 2014; 82(16):1425-1433 Doi: 10.1212/WNL.0000000000000344 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Porri, S; Fluss, J; Plecko, B; Paschke, E; Korff, CM; Kern, I Positive Outcome following Early Diagnosis and Treatment of Pyridoxal-5 '-Phosphate Oxidase Deficiency: A Case Report
NEUROPEDIATRICS. 2014; 45(1): 64-68. Doi: 10.1055/s-0033-1353489 (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

** Rüegger, CM; Lindner, M; Ballhausen, D; Baumgartner, MR; Beblo, S; Das, A; Gautschi, M; Glahn, EM; Grünert, SC; Hennermann, J; Hochuli, M; Huemer, M; Karall, D; Kölker, S; Lachmann, RH; Lotz-Havla, A; Möslinger, D; Nuoffer, JM; Plecko, B; Rutsch, F; Santer, R; Spiekerkoetter, U; Staufner, C; Stricker, T; Wijburg, FA; Williams, M; Burgard, P; Häberle, J Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.
J Inherit Metab Dis. 2014; 37(1):21-30 Doi: 10.1007/s10545-013-9624-0 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Schwinger, W; Sovinz, P; Benesch, M; Lackner, H; Seidel, M; Strenger, V; Sperl, D; Raicht, A; Brunner-Krainz, M; Paschke, E; Plecko, B; Urban, C Unrelated CD3/CD19-depleted peripheral stem cell transplantation for Hurler syndrome.
Pediatr Hematol Oncol. 2014; 31(8):723-730 Doi: 10.3109/08880018.2014.939794
Web of Science PubMed FullText FullText_MUG

 

** Thorwarth, A; Schnittert-Hübener, S; Schrumpf, P; Müller, I; Jyrch, S; Dame, C; Biebermann, H; Kleinau, G; Katchanov, J; Schuelke, M; Ebert, G; Steininger, A; Bönnemann, C; Brockmann, K; Christen, HJ; Crock, P; deZegher, F; Griese, M; Hewitt, J; Ivarsson, S; Hübner, C; Kapelari, K; Plecko, B; Rating, D; Stoeva, I; Ropers, HH; Grüters, A; Ullmann, R; Krude, H Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.
J Med Genet. 2014; 51(6): 375-387. Doi: 10.1136/jmedgenet-2013-102248 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Toelle, SP; Wille, D; Schmitt, B; Scheer, I; Thöny, B; Plecko, B Sensory stimulus-sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1 deficiency.
Epileptic Disord. 2014; 16(1): 88-92. Doi: 10.1684/epd.2014.0629 (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

** van Karnebeek, CD; Stockler-Ipsiroglu, S; Jaggumantri, S; Assmann, B; Baxter, P; Buhas, D; Bok, LA; Cheng, B; Coughlin, CR; Das, AM; Giezen, A; Al-Hertani, W; Ho, G; Meyer, U; Mills, P; Plecko, B; Struys, E; Ueda, K; Albersen, M; Verhoeven, N; Gospe, SM; Gallagher, RC; Van Hove, JK; Hartmann, H Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations.
JIMD Rep. 2014; 15(3):1-11 Doi: 10.1007/8904_2014_296 [OPEN ACCESS]
PubMed FullText FullText_MUG

 

Review

** Dulac, O; Plecko, B; Gataullina, S; Wolf, NI Occasional seizures, epilepsy, and inborn errors of metabolism.
Lancet Neurol. 2014; 13(7): 727-739. Doi: 10.1016/S1474-4422(14)70110-3
Web of Science PubMed FullText FullText_MUG

 

Abstract (Journal)

** Sperl, D; Schwinger, W; Sovinz, P; Benesch, M; Lackner, H; Seidel, M; Strenger, V; Raicht, A; Brunner-Krainz, M; Paschke, E; Plecko, B; Urban, C CD3/CD19-DEPLETIERTE AND CD3/TCR-alpha/beta-DEPLETIERTE PERIPHERAL STEM CELL TRANSPLANTATION AFTER CONDITIONING WITH THIOTEPA, FLUDARABINE, TREOSULFAN AND ATG IN CONGENITAL METABOLIC DISORDERS
TRANSPL INT. 2014; 27: 4-4.-Austrotransplant,28. Tagung der Österr. Ges. f. Transplantation, Transfusion und Genetik ; OCT 15-18, 2014; Bad Ischl,AUSTRIA . [Oral Communication]
Web of Science

 

Biographical-Item

** Plecko, B Peter-Emil-Becker-Price 2013.
Neuropediatrics. 2014; 45(2):69-69 Doi: 10.1055/s-0034-1371548 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

2013

Full paper/article (Journal)

** Abela, L; Toelle, SP; Hackenberg, A; Scheer, I; Güngör, T; Plecko, B Fatal outcome of rhino-orbital-cerebral mucormycosis due to bilateral internal carotid occlusion in a child after hematopoietic stem cell transplantation.
Pediatr Infect Dis J. 2013; 32(10): 1149-1150. Doi: 10.1097/INF.0b013e31829e69e7 (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

** Pichler, A; Enzinger, C; Fuchs, S; Plecko-Startinig, B; Gruber-Sedlmayr, U; Linortner, P; Langkammer, C; Khalil, M; Ebner, F; Ropele, S; Fazekas, F Differences and similarities in the evolution of morphologic brain abnormalities between paediatric and adult-onset multiple sclerosis.
Mult Scler. 2013; 19(2):167-172 Doi: 10.1177/1352458512448107
Web of Science PubMed FullText FullText_MUG

 

** Sterl, E; Paul, K; Paschke, E; Zschocke, J; Brunner-Krainz, M; Windisch, E; Konstantopoulou, V; Möslinger, D; Karall, D; Scholl-Bürgi, S; Sperl, W; Lagler, F; Plecko, B Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.
J Inherit Metab Dis. 2013; 36(1):7-13 Doi: 10.1007/s10545-012-9485-y [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Review

** Plecko, B Pyridoxine and pyridoxalphosphate-dependent epilepsies.
Handb Clin Neurol. 2013; 113(1): 1811-1817. Doi: 10.1016/B978-0-444-59565-2.00050-2
PubMed FullText FullText_MUG

 

Editorial

** Plecko, B Peter-Emil-Becker-Price 2012.
Neuropediatrics. 2013; 44(2): 59-59. Doi: 10.1055/s-0033-1337336 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

2012

Full paper/article (Journal)

** Fischer, C; Trajanoski, S; Papić, L; Windpassinger, C; Bernert, G; Freilinger, M; Schabhüttl, M; Arslan-Kirchner, M; Javaher-Haghighi, P; Plecko, B; Senderek, J; Rauscher, C; Löscher, WN; Pieber, TR; Janecke, AR; Auer-Grumbach, M SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.
J Neurol. 2012; 259(3):515-523 Doi: 10.1007/s00415-011-6213-8 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Haack, TB; Haberberger, B; Frisch, EM; Wieland, T; Iuso, A; Gorza, M; Strecker, V; Graf, E; Mayr, JA; Herberg, U; Hennermann, JB; Klopstock, T; Kuhn, KA; Ahting, U; Sperl, W; Wilichowski, E; Hoffmann, GF; Tesarova, M; Hansikova, H; Zeman, J; Plecko, B; Zeviani, M; Wittig, I; Strom, TM; Schuelke, M; Freisinger, P; Meitinger, T; Prokisch, H Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
J Med Genet. 2012; 49(4): 277-283. Doi: 10.1136/jmedgenet-2012-100846
Web of Science PubMed FullText FullText_MUG

 

** van Baalen, A; Häusler, M; Plecko-Startinig, B; Strautmanis, J; Vlaho, S; Gebhardt, B; Rohr, A; Abicht, A; Kluger, G; Stephani, U; Probst, C; Vincent, A; Bien, CG Febrile infection-related epilepsy syndrome without detectable autoantibodies and response to immunotherapy: a case series and discussion of epileptogenesis in FIRES.
Neuropediatrics. 2012; 43(4):209-216 Doi: 10.1055/s-0032-1323848
Web of Science PubMed FullText FullText_MUG

 

** van Karnebeek, CD; Hartmann, H; Jaggumantri, S; Bok, LA; Cheng, B; Connolly, M; Coughlin, CR; Das, AM; Gospe, SM; Jakobs, C; van der Lee, JH; Mercimek-Mahmutoglu, S; Meyer, U; Struys, E; Sinclair, G; Van Hove, J; Collet, JP; Plecko, BR; Stockler, S Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.
Mol Genet Metab. 2012; 107(3):335-344 Doi: 10.1016/j.ymgme.2012.09.006 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Abstract (Journal)

** Karall, D; Kogelnig, K; Brunner-Krainz, M; Plecko, B; Moslinger, D; Konstantopoulou, V; Volkmar, B; Sperl, W; Scholl-Burgi, S CLINICAL OUTCOME, BIOCHEMICAL AND THERAPEUTIC FOLLOW UP IN AUSTRIAN PATIENTS WITH LONG-CHAIN 3-HYDROXY ACYL COA DEFICIENCY (LCHADD)
J INHERIT METAB DIS. 2012; 35: S69-S69.
Web of Science

 

** Kern, I; Plecko, B; Paschke, E; Korff, C; Fluss, J EARLY DIAGNOSIS OF PYRIDOXAL-5 '-PHOSPHATE OXIDASE (PNPO) DEFICIENCY AND OUTCOME AT 8 MONTHS
J INHERIT METAB DIS. . 2012; 35: S135-S135. [Poster]
Web of Science

 

** Lagler, FB; Brunner-Krainz, M; Moeslinger, D; Konstantopoulou, V; Roscher, A; Erwa, W; Sterl, L; Karall, D; Scholl-Burgi, S; Zschocke, J; Sperl, W; Volkmar, B; Plecko, B 48-HOUR BH4 LOADING TEST VERSUS ALGORITHMIC PHENYLALANINE CHALLENGE: INTERIM ANALYSIS OF AN OPEN-LABEL MULTICENTRE STUDY
J INHERIT METAB DIS. 2012; 35: S40-S40.
Web of Science

 

** van Karnebeek, CD; Hartmann, H; Mahmutoglu, S; Das, A; Cheng, B; Giezen, A; Meyer, U; Struys, E; Jakobs, C; van der Lee, JH; Paschke, E; Plecko, B; Stockler, S; THE LYSINE RESTRICTED DIET AS NOVEL ADD-ON THERAPY FOR PYRIDOXINE DEPENDENT EPILEPSY: PILOT STUDY RESULTS.
J INHERIT METAB DIS. 2012; 35: S134-S134.
Web of Science

 

2011

Full paper/article (Journal)

** Hartmann, H; Fingerhut, M; Jakobs, C; Plecko, B Status epilepticus in a neonate treated with pyridoxine because of a familial recurrence risk for antiquitin deficiency: pyridoxine toxicity?
Dev Med Child Neurol. 2011; 53(12):1150-1153 Doi: 10.1111/j.1469-8749.2011.04033.x (- Case Report) [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Paschke, E; Fauler, G; Winkler, H; Schlagenhauf, A; Plecko, B; Erwa, W; Breunig, F; Urban, W; Vujkovac, B; Sunder-Plassmann, G; Kotanko, P Urinary total globotriaosylceramide and isoforms to identify women with Fabry disease: a diagnostic test study.
Am J Kidney Dis. 2011; 57(5):673-681 Doi: 10.1053/j.ajkd.2010.10.046
Web of Science PubMed FullText FullText_MUG

 

Review

** Stockler, S; Plecko, B; Gospe, SM; Coulter-Mackie, M; Connolly, M; van Karnebeek, C; Mercimek-Mahmutoglu, S; Hartmann, H; Scharer, G; Struijs, E; Tein, I; Jakobs, C; Clayton, P; Van Hove, JL Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
Mol Genet Metab. 2011; 104(1-2):48-60 Doi: 10.1016/j.ymgme.2011.05.014
Web of Science PubMed FullText FullText_MUG

 

Abstract (Journal)

** Guffon, N; Gessler, P; Galloway, P; Martinez-Pardo, M; Meli, C; Mulder, MF; Nordenstrom, A; Plecko, B; Scheible, D; Valayannopoulos, V; Haberle, J Treatment of NAGS deficiency: Retrospective data on 23 patients treated with carglumic acid over 16 years
MOL GENET METAB. 2011; 102(3):286-287.
Web of Science

 

2010

Full paper/article (Journal)

** Decker, C; Yu, ZF; Giugliani, R; Schwartz, IV; Guffon, N; Teles, EL; Miranda, MC; Wraith, JE; Beck, M; Arash, L; Scarpa, M; Ketteridge, D; Hopwood, JJ; Plecko, B; Steiner, R; Whitley, CB; Kaplan, P; Swiedler, SJ; Conrad, S; Harmatz, P Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.
J Pediatr Rehabil Med. 2010; 3(2):89-100 Doi: 10.3233/PRM-2010-0113 [OPEN ACCESS]
PubMed FullText FullText_MUG

 

** Harmatz, P; Yu, ZF; Giugliani, R; Schwartz, IV; Guffon, N; Teles, EL; Miranda, MC; Wraith, JE; Beck, M; Arash, L; Scarpa, M; Ketteridge, D; Hopwood, JJ; Plecko, B; Steiner, R; Whitley, CB; Kaplan, P; Swiedler, SJ; Hardy, K; Berger, KI; Decker, C Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.
J Inherit Metab Dis. 2010; 33(1):51-60 Doi: 10.1007/s10545-009-9007-8 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Henneke, M; Gegner, S; Hahn, A; Plecko-Startinig, B; Weschke, B; Gartner, J; Brockmann, K Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease
NEUROLOGY. 2010; 74(22): 1785-1789. Doi: 10.1212/WNL.0b013e3181e0f820
Web of Science PubMed FullText FullText_MUG

 

** Hofer, D; Paul, K; Fantur, K; Beck, M; Roubergue, A; Vellodi, A; Poorthuis, BJ; Michelakakis, H; Plecko, B; Paschke, E Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.
Clin Genet. 2010; 78(3):236-246 Doi: 10.1111/j.1399-0004.2010.01379.x
Web of Science PubMed FullText FullText_MUG

 

Comment

** Ring, S; Lackner, H; Urban, C; Brunner-Krainz, M; Plecko-Startinig, B Alexander disease: an important mimicker of focal brainstem glioma.
Pediatr Blood Cancer. 2010; 54(3):486; author reply 487-486; author reply 487 Doi: 10.1002/pbc.22334
Web of Science PubMed FullText FullText_MUG

 

2009

Full paper/article (Journal)

** Acham-Roschitz, B; Plecko, B; Lindbichler, F; Bittner, R; Mache, CJ; Sperl, W; Mayr, JA A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy.
Mol Genet Metab. 2009; 98(3):300-304 Doi: 10.1016/j.ymgme.2009.06.012 (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

** Gallagher, RC; Van Hove, JL; Scharer, G; Hyland, K; Plecko, B; Waters, PJ; Mercimek-Mahmutoglu, S; Stockler-Ipsiroglu, S; Salomons, GS; Rosenberg, EH; Struys, EA; Jakobs, C Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.
Ann Neurol. 2009; 65(5):550-556 Doi: 10.1002/ana.21568 (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

** Haberlandt, E; Canestrini, C; Brunner-Krainz, M; Möslinger, D; Mussner, K; Plecko, B; Scholl-Bürgi, S; Sperl, W; Rostásy, K; Karall, D Epilepsy in patients with propionic acidemia.
Neuropediatrics. 2009; 40(3):120-125 Doi: 10.1055/s-0029-1243167
Web of Science PubMed FullText FullText_MUG

 

** Hofer, D; Paul, K; Fantur, K; Beck, M; Burger, F; Caillaud, C; Fumic, K; Ledvinova, J; Lugowska, A; Michelakakis, H; Radeva, B; Ramaswami, U; Plecko, B; Paschke, E GM1 Gangliosidosis and Morquio B Disease: Expression Analysis of Missense Mutations Affecting the Catalytic Site of Acid beta-Galactosidase
HUM MUTAT. 2009; 30(8): 1214-1221. Doi: 10.1002/humu.21031
Web of Science PubMed FullText FullText_MUG

 

** Pfurtscheller, K; Senning, B; Bernhard, H; Novak, M; Zobel, G; Plecko, B; Muntean, W Malignant stroke in an adolescent with a homozygous MTHFR 677CT mutation and intake of hormonal contraceptives
HAMOSTASEOLOGIE. 2009; 29: S84-S86. Doi: 10.1055/s-0037-1621494 (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

** Pfurtscheller, K; Senning, B; Sorantin, E; Zobel, G; Plecko, B; Muntean, W Malignant stroke in a female adolescent (case presentation).
Acta Paediatr. 2009; 98(6):929-930 Doi: 10.1111/j.1651-2227.2008.01078.x (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

** Rosenberg, EH; Struys, EA; Hyland, K; Plecko, B; Waters, PJ; Mercimek-Mahmutoglu, S; Stockler-Ipsiroglu, S; Gallagher, RC; Scharer, G; Van Hove, JL; Jakobs, C; Salomons, GS Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification.
Mol Genet Metab. 2009; 97(4):312-314 Doi: 10.1016/j.ymgme.2009.05.002
Web of Science PubMed FullText FullText_MUG

 

** Spiekerkoetter, U; Lindner, M; Santer, R; Grotzke, M; Baumgartner, MR; Boehles, H; Das, A; Haase, C; Hennermann, JB; Karall, D; de Klerk, H; Knerr, I; Koch, HG; Plecko, B; Roschinger, W; Schwab, KO; Scheible, D; Wijburg, FA; Zschocke, J; Mayatepek, E; Wendel, U Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop
J INHERIT METAB DIS. 2009; 32(4): 488-497. Doi: 10.1007/s10545-009-1125-9
Web of Science PubMed FullText FullText_MUG

 

** Spiekerkoetter, U; Lindner, M; Santer, R; Grotzke, M; Baumgartner, MR; Boehles, H; Das, A; Haase, C; Hennermann, JB; Karall, D; de Klerk, H; Knerr, I; Koch, HG; Plecko, B; Röschinger, W; Schwab, KO; Scheible, D; Wijburg, FA; Zschocke, J; Mayatepek, E; Wendel, U Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop.
J Inherit Metab Dis. 2009; 32(4):498-505 Doi: 10.1007/s10545-009-1126-8
Web of Science PubMed FullText FullText_MUG

 

Editorial

** Pfurtscheller, K; Senning, B; Sorantin, E; Zobel, G; Plecko, B; Muntean, W Malignant stroke in a female adolescent (Discussion and Diagnosis)
ACTA PAEDIAT. 2009; 98(6): 1070-1071. Doi: 10.1111/j.1651-2227.2008.01079.x
Web of Science FullText FullText_MUG

 

Abstract (Journal)

** Plecko, BR; Paul, K; Struys, E; Paschke, E; Stockler-Ipsiroglu, SG; Erwa, W; Jakobs, C MOLECULAR ANALYSIS OF 54 PATIENTS WITH PYRIDOXINE DEPENDENT EPILEPSY DUE TO ANTIQUITIN DEFICIENCY
MOL GENET METAB. 2009; 98(1-2):125- [Poster]
Web of Science

 

Full paper/article (Proceedings)

** Plecko, B; Stockler, S Vitamin B6 Dependent Seizures
CAN J NEUROL SCI. 2009; 36: S73-S77.
Web of Science PubMed

 

** Stockler-Ipsiroglu, S; Plecko, B Metabolic Epilepsies: Approaches to a Diagnostic Challenge
CAN J NEUROL SCI. 2009; 36: S67-S72.
Web of Science PubMed

 

2008

Full paper/article (Journal)

** Auer-Grumbach, M; Fischer, C; Papić, L; John, E; Plecko, B; Bittner, RE; Bernert, G; Pieber, TR; Miltenberger, G; Schwarz, R; Windpassinger, C; Grill, F; Timmerman, V; Speicher, MR; Janecke, AR Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.
Neuropediatrics. 2008; 39(1):33-38 Doi: 10.1055/s-2008-1077085 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG Google Scholar

 

** Harmatz, P; Giugliani, R; Schwartz, IV; Guffon, N; Teles, EL; Miranda, MC; Wraith, JE; Beck, M; Arash, L; Scarpa, M; Ketteridge, D; Hopwood, JJ; Plecko, B; Steiner, R; Whitley, CB; Kaplan, P; Yu, ZF; Swiedler, SJ; Decker, C; MPS VI Study Group Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase.
Mol Genet Metab. 2008; 94(4):469-475 Doi: 10.1016/j.ymgme.2008.04.001
Web of Science PubMed FullText FullText_MUG

 

** Henneke, M; Combes, P; Diekmann, S; Bertini, E; Brockmann, K; Burlina, AP; Kaiser, J; Ohlenbusch, A; Plecko, B; Rodriguez, D; Boespflug-Tanguy, O; Gärtner, J GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.
Neurology. 2008; 70(10):748-754 Doi: 10.1212/01.wnl.0000284828.84464.35
Web of Science PubMed FullText FullText_MUG

 

** Kluger, G; Blank, R; Paul, K; Paschke, E; Jansen, E; Jakobs, C; Wörle, H; Plecko, B Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness.
Neuropediatrics. 2008; 39(5):276-279 Doi: 10.1055/s-0029-1202833
Web of Science PubMed FullText FullText_MUG

 

** Kroepfl, T; Petek, E; Schwarzbraun, T; Kroisel, PM; Plecko, B Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the myelin transcription factor 1 gene (MYT1).
Clin Genet. 2008; 73(5):492-495 Doi: 10.1111/j.1399-0004.2008.00982.x
Web of Science PubMed FullText FullText_MUG

 

** Schulz, AL; Albrecht, B; Arici, C; van der Burgt, I; Buske, A; Gillessen-Kaesbach, G; Heller, R; Horn, D; Hübner, CA; Korenke, GC; König, R; Kress, W; Krüger, G; Meinecke, P; Mücke, J; Plecko, B; Rossier, E; Schinzel, A; Schulze, A; Seemanova, E; Seidel, H; Spranger, S; Tuysuz, B; Uhrig, S; Wieczorek, D; Kutsche, K; Zenker, M Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
Clin Genet. 2008; 73(1):62-70 Doi: 10.1111/j.1399-0004.2007.00931.x
Web of Science PubMed FullText FullText_MUG

 

2007

Full paper/article (Journal)

** Ivanova, N; Claeys, KG; Deconinck, T; Litvinenko, I; Jordanova, A; Auer-Grumbach, M; Haberlova, J; Löfgren, A; Smeyers, G; Nelis, E; Mercelis, R; Plecko, B; Priller, J; Zámecník, J; Ceulemans, B; Erichsen, AK; Björck, E; Nicholson, G; Sereda, MW; Seeman, P; Kremensky, I; Mitev, V; De Jonghe, P Hereditary spastic paraplegia 3A associated with axonal neuropathy.
Arch Neurol. 2007; 64(5):706-713 Doi: 10.1001/archneur.64.5.706 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG Google Scholar

 

** Plecko, B; Paul, K; Paschke, E; Stoeckler-Ipsiroglu, S; Struys, E; Jakobs, C; Hartmann, H; Luecke, T; di Capua, M; Korenke, C; Hikel, C; Reutershahn, E; Freilinger, M; Baumeister, F; Bosch, F; Erwa, W Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.
Hum Mutat. 2007; 28(1):19-26 Doi: 10.1002/humu.20433 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Short report/Letter

** Marschitz, I; Rödl, S; Gruber-Sedlmayr, U; Church, A; Giovannoni, G; Zobel, G; Mache, CJ; Raith, J; Plecko, B Severe chorea with positive anti-basal ganglia antibodies after herpesencephalitis.
J Neurol Neurosurg Psychiatry. 2007; 78(1):105-107 Doi: 10.1136/jnnp.2006.090555 (- Case Report) [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Review

** Poretti, A; Boltshauser, E; Plecko, B Brainstem disconnection: case report and review of the literature.
Neuropediatrics. 2007; 38(4):210-212 Doi: 10.1055/s-2007-985907 (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

Abstract (Journal)

** Brunner-Krainz, M; Harmatz, P; Pfleger, A; Eber, E; Zach, M; Rodl, S; Paschke, E; Plecko, B Six years experience of enzyme replacement therapy (ERT) with recombinant human arylsulfatase B (rhASB) in an 18 year old male with MPS VI (Maroteaux-Lamy)
J INHERIT METAB DIS. 2007; 30: 116-116.-SSIEM Society for the Study of Inborn Erros of Metabolism; SEPT 4-7, 2007; Hamburg, GERMANY. [Poster]
Web of Science

 

** Paschke, E; Fauler, G; Urban, W; Plecko, B; Erwa, W; Vujkovac, B; Breunig, F; Sunder-Plassmann, G; Kotanko, P Female fabry patients can be discriminated from healthy and nephropathic non-fabry subjects by an analysis of globotriaosylceramide isoforms in urine.
NEPHROL DIALYSIS TRANSPLANT. 2007; 22: 29-30.-XLIV Congress of the European Renal Association European Dialysis and Transplant Association (ERA-EDTA) 2007 ; JUNE, 21-24; Barcelona, SPAIN. [Poster]
Web of Science

 

** Paschke, E; Paul, K; Erwa, W; Plecko, B Genotyping of patients with pyridoxin-dependent epilepsy (PDE) by RT-PCR in cDNA of leukocytes is disturbed by an antiquitin pseudogene
J INHERIT METAB DIS. 2007; 30: 132-132.-SSIEM-Society for the Study of Inborn Errors of Metabolism; SEPT 4-7, 2007; Hamburg, GERMANY. [Poster]
Web of Science

 

Comment

** Plecko, B Lessons to learn from rare inborn errors of metabolism.
Neuropediatrics. 2007; 38(2):59-60 Doi: 10.1055/s-2007-985134 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

2006

Full paper/article (Journal)

** Kroepfl, T; Mair, E; Deutsch, J; Brunner-Krainz, M; Paschke, E; Plecko, B Copper concentration of liver tissue under long-term copper-histidine therapy in a patient with Menkes disease.
J Inherit Metab Dis. 2006; 29(4):593-593 Doi: 10.1007/s10545-006-0312-1 (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

** Kure, S; Kato, K; Dinopoulos, A; Gail, C; DeGrauw, TJ; Christodoulou, J; Bzduch, V; Kalmanchey, R; Fekete, G; Trojovsky, A; Plecko, B; Breningstall, G; Tohyama, J; Aoki, Y; Matsubara, Y Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.
Hum Mutat. 2006; 27(4):343-352 Doi: 10.1002/humu.20293
Web of Science PubMed FullText FullText_MUG

 

** Mills, PB; Struys, E; Jakobs, C; Plecko, B; Baxter, P; Baumgartner, M; Willemsen, MA; Omran, H; Tacke, U; Uhlenberg, B; Weschke, B; Clayton, PT Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
Nat Med. 2006; 12(3):307-309 Doi: 10.1038/nm1366
Web of Science PubMed FullText FullText_MUG

 

Abstract (Journal)

** Koch, J; Mayr, J; Plecko, B; Haberlandt, E; Karall, D; Lauffer, H; Muller-Felber, W; Roschinger, W; Futterer, N; Freisinger, P; Horvath, R; Sperl, W Clinical spectrum of polymerase-gamma mutations in 9 pediatric patients
J INHERIT METAB DIS. 2006; 29: 121-121. [Poster]
Web of Science

 

** Plecko, B; Paul, K; Paschke, E; Erwa, W; Hartmann, H; Luecke, T; Di Capua, M; Anti, G; Korenke, C; Hikel, C; Seidl, R; Bosch, F; Baumeister, F; Stoeckler-Ipsiroglu, S Pipecolic acid concentrations and molecular analysis of the antiquitin (ALDH7 A1) gene in patients with pyridoxine-dependent epilepsy
J INHERIT METAB DIS. ; 29: 78-78. [Poster]
Web of Science

 

** Plecko, B; Paul, K; Paschke, E; Erwa, W; Hartmann, H; Luecke, T; Di Capua, M; Seganti, G; Korenke, C; Hikel, C; Seidl, R; Stokler-Ipsiroglu, S Pipecolic acid concentrations and molecular analysis of the antiquitin (ALDH7 A1) gene in patients with pyridoxine-dependent epilepsy
EPILEPSIA. ; 47: 89-89. [Poster]
Web of Science

 

** Talim, B; Futterer, N; Plecko, B; Kale, G; Topaloglu, H; Horvath, R Six children with early-onset mitochondrial encephalomyopathy and one heterozygous pathogenic mutation in POLG1
NEUROMUSCULAR DISORD. 2006; 16(9-10):659-660. Doi: 10.1016/j.nmd.2006.05.063 [Poster]
Web of Science FullText FullText_MUG

 

2005

Full paper/article (Journal)

** Fauler, G; Rechberger, GN; Devrnja, D; Erwa, W; Plecko, B; Kotanko, P; Breunig, F; Paschke, E Rapid determination of urinary globotriaosylceramide isoform profiles by electrospray ionization mass spectrometry using stearoyl-d35-globotriaosylceramide as internal standard.
Rapid Commun Mass Spectrom. 2005; 19(11):1499-1506 Doi: 10.1002/rcm.1948
Web of Science PubMed FullText FullText_MUG

 

** Plecko, B; Hikel, C; Korenke, GC; Schmitt, B; Baumgartner, M; Baumeister, F; Jakobs, C; Struys, E; Erwa, W; Stöckler-Ipsiroglu, S Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy.
Neuropediatrics. 2005; 36(3):200-205 Doi: 10.1055/s-2005-865727
Web of Science PubMed FullText FullText_MUG

 

** Plecko, B; Hoeger, H; Jakobs, C; Struys, E; Stromberger, C; Leschnik, M; Muehl, A; Stoeckler-Ipsiroglu, S Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient rats.
J Inherit Metab Dis. 2005; 28(5):689-693 Doi: 10.1007/s10545-005-0071-4
Web of Science PubMed FullText FullText_MUG

 

** Stockler-Ipsiroglu, S; Herle, M; Nennstiel, U; Wendel, U; Burgard, P; Plecko, B; Ipsiroglu, OS Inborn metabolic diseases. Special aspects of the care of children from immigrant families
MONATSSCHR KINDERHEILK 2005 153: 22-+. Doi: 10.1007/s00112-004-1072-3
Web of Science FullText FullText_MUG

 

Short report/Letter

** Roschitz, B; Plecko, B; Huemer, M; Biebl, A; Foerster, H; Sperl, W Nutritional infantile vitamin B12 deficiency: pathobiochemical considerations in seven patients.
Arch Dis Child Fetal Neonatal Ed. 2005; 90(3):F281-F282 Doi: 10.1136/adc.2004.061929 (- Case Report) [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Abstract (Journal)

** Fauler, G; Rechberger, GN; Devrnja, D; Erwa, W; Plecko, B; Kotanko, P; Breunig, F; Paschke, E RAPID DETERMINATION OF URINARY GLOBOTRIAOSYLCERAMIDE ISOFORM PROFILES BY ELECTROSPRAY IONIZATION MASS SPECTROMETRY USING STEAROYL-D35-GLOBOTRIAOSYLCERAMIDE AS INTERNAL STANDARD
J INHERIT METAB DIS. 2005; 28: 161-161.
Web of Science

 

** Plecko, B; Hikel, C; Korenke, GC; Schmitt, B; Baumgartner, M; Baumeister, F; Jakobs, C; Struys, E; Erwa, W; Stockler-Ipsiroglu, S PIPECOLIC ACID AS A DIAGNOSTIC MARKER OF PYRIDOXINE-DEPENDENT EPILEPSY
J INHERIT METAB DIS. 2005; 28: 236-236.
Web of Science

 

2004

Full paper/article (Journal)

** Harmatz, P; Whitley, CB; Waber, L; Pais, R; Steiner, R; Plecko, B; Kaplan, P; Simon, J; Butensky, E; Hopwood, JJ Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
J Pediatr. 2004; 144(5):574-580 Doi: 10.1016/j.jpeds.2004.03.018
Web of Science PubMed FullText FullText_MUG

 

** Kuijpers, TW; Maianski, NA; Tool, AT; Becker, K; Plecko, B; Valianpour, F; Wanders, RJ; Pereira, R; Van Hove, J; Verhoeven, AJ; Roos, D; Baas, F; Barth, PG Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis.
Blood. 2004; 103(10):3915-3923 Doi: 10.1182/blood-2003-11-3940 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Abstract (Journal)

** Harmatz, P; Whitley, C; Steiner, R; Plecko, B; Kaplan, P; Waterson, J; Ketteridge, D; Giugliani, R; Schwartz, I; Guffon, N; Miranda, CS; Keppen, L; Teles, EL; Kramer, WG; Hopwood, JJ Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulfatase (rhASB) enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
MOL GENET METAB 2004 81: 172-172.
Web of Science

 

** Harmatz, PR; Whitley, C; Steiner, R; Plecko, B; Kaplan, P; Waterson, J; Ketteridge, D; Giugliani, R; Schwartz, I; Guffon, N; Miranda, CS; Keppen, L; Teles, E; Hopwood, J Update on phase I/II and phase II studies of recombinant human N-acetylgalactosamine 4-sulfatase (rhASB)) enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
GENET MED 2004 6: 248-248.
Web of Science

 

2003

Full paper/article (Journal)

** Claes, L; Ceulemans, B; Audenaert, D; Smets, K; Löfgren, A; Del-Favero, J; Ala-Mello, S; Basel-Vanagaite, L; Plecko, B; Raskin, S; Thiry, P; Wolf, NI; Van Broeckhoven, C; De Jonghe, P De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.
Hum Mutat. 2003; 21(6):615-621 Doi: 10.1002/humu.10217
Web of Science PubMed FullText FullText_MUG

 

** Häberle, J; Schmidt, E; Pauli, S; Kreuder, JG; Plecko, B; Galler, A; Wermuth, B; Harms, E; Koch, HG Mutation analysis in patients with N-acetylglutamate synthase deficiency.
Hum Mutat. 2003; 21(6):593-597 Doi: 10.1002/humu.10216
Web of Science PubMed FullText FullText_MUG

 

** Plecko, B; Stöckler-Ipsiroglu, S; Gruber, S; Mlynarik, V; Moser, E; Simbrunner, J; Ebner, F; Bernert, G; Harrer, G; Gal, A; Prayer, D Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype.
Neuropediatrics. 2003; 34(3):127-136 Doi: 10.1055/s-2003-41276
Web of Science PubMed FullText FullText_MUG

 

** Skladal, D; Sudmeier, C; Konstantopoulou, V; Stöckler-Ipsiroglu, S; Plecko-Startinig, B; Bernert, G; Zeman, J; Sperl, W The clinical spectrum of mitochondrial disease in 75 pediatric patients.
Clin Pediatr (Phila). 2003; 42(8):703-710 Doi: 10.1177/000992280304200806
Web of Science PubMed FullText FullText_MUG

 

** van der Knaap, MS; van Berkel, CG; Herms, J; van Coster, R; Baethmann, M; Naidu, S; Boltshauser, E; Willemsen, MA; Plecko, B; Hoffmann, GF; Proud, CG; Scheper, GC; Pronk, JC eIF2B-related disorders: antenatal onset and involvement of multiple organs.
Am J Hum Genet. 2003; 73(5):1199-1207 Doi: 10.1086/379524 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Short report/Letter

** Hussain, K; Eaton, S; Clayton, P Exogenous administered DL- sodium beta-hydroxybutyrate (beta-OHB) can cross the blood brain barrier.
Pediatr Res. 2003; 53(5):865; author reply 865-865; author reply 866 Doi: 10.1203/01.PDR.0000063371.16142.66 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

** Petek, E; Plecko-Startinig, B; Windpassinger, C; Egger, H; Wagner, K; Kroisel, PM Molecular characterisation of a 3.5 Mb interstitial 14q deletion in a child with several phenotypic anomalies.
J Med Genet. 2003; 40(4):e47-e47 Doi: 10.1136/jmg.40.4.e47 (- Case Report) [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Abstract (Journal)

** Hopwood, J; Whitley, C; Waber, L; Pais, R; Steiner, R; Plecko, B; Kaplan, P; Simon, J; Waterson, J; Harmatz, P A phase I/II randomized, double blind, two dose group study of recombinant human N-acetylgalactosamine-4-sulfatase (rhASB) enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): 96 week progress report.
AMER J HUM GENET 2003 73: 200-200.
Web of Science

 

2002

Full paper/article (Journal)

** De Jonghe, P; Auer-Grumbach, M; Irobi, J; Wagner, K; Plecko, B; Kennerson, M; Zhu, D; De Vriendt, E; Van Gerwen, V; Nicholson, G; Hartung, HP; Timmerman, V Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?
Brain. 2002; 125(Pt 6):1320-1325 Doi: 10.1093/brain/awf127 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG Google Scholar

 

** Kroepfl, T; Paul, K; Kotanko, P; Plecko, B; Paschke, E A novel 6 bp insertion in exon 7 associated with an unusual phenotype in a family with Fabry disease.
J Inherit Metab Dis. 2002; 25(8):695-696 Doi: 10.1023/A:1022833332162 (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

** Plecko, B; Stoeckler-Ipsiroglu, S; Schober, E; Harrer, G; Mlynarik, V; Gruber, S; Moser, E; Moeslinger, D; Silgoner, H; Ipsiroglu, O Oral beta-hydroxybutyrate supplementation in two patients with hyperinsulinemic hypoglycemia: monitoring of beta-hydroxybutyrate levels in blood and cerebrospinal fluid, and in the brain by in vivo magnetic resonance spectroscopy.
Pediatr Res. 2002; 52(2):301-306 Doi: 10.1203/00006450-200208000-00025
Web of Science PubMed FullText FullText_MUG

 

** Valianpour, F; Wanders, RJ; Overmars, H; Vreken, P; Van Gennip, AH; Baas, F; Plecko, B; Santer, R; Becker, K; Barth, PG Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts.
J Pediatr. 2002; 141(5):729-733 Doi: 10.1067/mpd.2002.129174
Web of Science PubMed FullText FullText_MUG

 

Abstract (Journal)

** Devolder-Irobi, JI; De Vriendt, E; Van Gerwen, V; Auer-Grumbach, M; Plecko, B; Wagner, K; Kennerson, M; Nicholson, G; Zhu, D; Hartung, HP; Timmerman, V; De-Jonghe, P Autosomal dominant juvenile amyotrophic lateral sclerosis (ALS) and distal hereditary motor neuropathy (distal HMN) with pyramidal tract signs
EUR J HUMAN GENET 2002 10: 214-215.
Web of Science

 

** Harmatz, P; Whitley, CB; Waber, L; Pais, R; Steiner, R; Plecko, B; Kaplan, P; Simon, J; Waterson, J; Hopwood, J A phase I/II study of enzyme replacement therapy (ERT) for mucopolysaccharidosis VI (MPS VI Maroteaux-Lamy syndrome): 48 week progress report.
AMER J HUM GENET 2002 71: 582-582.
Web of Science

 

2001

Full paper/article (Journal)

** Moslinger, D; Stockler-Ipsiroglu, S; Scheibenreiter, S; Tiefenthaler, M; Muhl, A; Seidl, R; Strobl, W; Plecko, B; Suormala, T; Baumgartner, ER Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria
EUR J PEDIAT. 2001; 160(5): 277-282. Doi: 10.1007/s004310100740
Web of Science FullText FullText_MUG

 

** Möslinger, D; Stöckler-Ipsiroglu, S; Scheibenreiter, S; Tiefenthaler, M; Mühl, A; Seidl, R; Strobl, W; Plecko, B; Suormala, T; Baumgartner, ER Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria.
Eur J Pediatr. 2001; 160(5):277-282 Doi: 10.1007/s004310100740
PubMed FullText FullText_MUG

 

** Plecko, B; Stockler-Ipsiroglu, S Macrocephaly as a feature of inborn errors of metabolism
MONATSSCHR KINDERHEILK 2001 149: 137-146. Doi: 10.1007/s001120050739
Web of Science FullText FullText_MUG

 

Short report/Letter

** Kroepfl, T; Milos, I; Paul, K; Plecko, B; Paschke, E The frequency of common mutations among patients with mucopolysaccharidosis types I, II and IIIA diagnosed in Austria over the last 17 years.
Clin Genet. 2001; 60(5):393-394 Doi: 10.1034/j.1399-0004.2001.600513.x
Web of Science PubMed FullText FullText_MUG

 

Abstract (Journal)

** Harmatz, P; Whitley, CB; Belani, K; Waber, L; Pais, R; Steiner, R; Plecko, B; Simon, J; Thompson, J; Waterson, J; Lammer, E; Rowe, R; Koseoglu, S; Cohen, R; Rosenfeld, H; Gutierrez, H; Hopwood, J A phase I/II randomized, double blind, two dose group study of recombinant human N-acetylgalactosamine-4-sulfatase (rhASB) enzyme replacement therapy in patients with mucopolysaccharidosis (MPS) VI (Maroteaux-Lamy syndrome).
AMER J HUM GENET 2001 69: 674-674.
Web of Science

 

2000

Full paper/article (Journal)

** Plecko, B; Stöckler-Ipsiroglu, S; Paschke, E; Erwa, W; Struys, EA; Jakobs, C Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy.
Ann Neurol. 2000; 48(1):121-125 Doi: 10.1002/1531-8249(200007)48:1<121::AID-ANA20>3.0.CO;2-V (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

** Vreken, P; Valianpour, F; Nijtmans, LG; Grivell, LA; Plecko, B; Wanders, RJ; Barth, PG Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome.
Biochem Biophys Res Commun. 2000; 279(2):378-382 Doi: 10.1006/bbrc.2000.3952
Web of Science PubMed FullText FullText_MUG

 

Short report/Letter

** Emberger, W; Petek, E; Plecko-Starting, B; Kroisel, PM; Zierler, H; Wagner, K A de novo complex chromosomal rearrangement involving chromosomes 2, 3, and 10 associated with microcephaly and early onset spasticity.
J Med Genet. 2000; 37(11):892-896 Doi: 10.1136/jmg.37.11.892 (- Case Report) [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

1999

Short report/Letter

** Schuelke, M; Smeitink, J; Mariman, E; Loeffen, J; Plecko, B; Trijbels, F; Stöckler-Ipsiroglu, S; van den Heuvel, L Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.
Nat Genet. 1999; 21(3):260-261 Doi: 10.1038/6772 (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

1998

Full paper/article (Journal)

** Plecko, B; Erwa, W; Wermuth, B Partial N-acetylglutamate synthetase deficiency in a 13-year-old girl: diagnosis and response to treatment with N-carbamylglutamate.
Eur J Pediatr. 1998; 157(12):996-998 Doi: 10.1007/s004310050985 (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

1997

Editorial

** Plecko, B; Paschke, E New aspects in diagnosis and therapy of hereditary diseases of the nervous and skeletal systems].
Wien Klin Wochenschr. 1997; 109(3):65-67
Web of Science PubMed

 

1996

Full paper/article (Journal)

** Hoffmann, GF; Athanassopoulos, S; Burlina, AB; Duran, M; de Klerk, JB; Lehnert, W; Leonard, JV; Monavari, AA; Müller, E; Muntau, AC; Naughten, ER; Plecko-Starting, B; Superti-Furga, A; Zschocke, J; Christensen, E Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency.
Neuropediatrics. 1996; 27(3):115-123 Doi: 10.1055/s-2007-973761
Web of Science PubMed FullText FullText_MUG

 

1995

Full paper/article (Journal)

** Hoffmann, GF; Böhles, HJ; Burlina, A; Duran, M; Herwig, J; Lehnert, W; Leonard, JV; Muntau, A; Plecko-Starting, FK; Superti-Furga, A Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency.
J Inherit Metab Dis. 1995; 18(2):173-176 Doi: 10.1007/BF00711759
Web of Science PubMed FullText FullText_MUG

 

** Sedlmayr, P; Plecko, B; Paschke, E; Zenz, W; Ramschak, H; Toplak, H; Wascher, TC; Wilders-Truschnig, M; Stöckler, S Severely depressed natural killer cell activity of patients with adrenoleukodystrophy under treatment with Lorenzo's oil.
J Inherit Metab Dis. 1995; 18(1):101-102 Doi: 10.1007/BF00711394
Web of Science PubMed FullText FullText_MUG Google Scholar

 

Abstract (Journal)

** HOFFMANN, GF; BURLINA, A; DURAN, M; DEKLERK, JBC; LEHNERT, W; LEONARD, JV; MUNTAU, A; PLECKOSTARTING, FK; CHRISTENSEN, E PREVENTION OF DISEASE IN GLUTARYL-COA DEHYDROGENASE-DEFICIENCY (GDD)
PEDIAT RES 1995 38: 438-438.
Web of Science

 

1993

Full paper/article (Journal)

** Mangge, H; Plecko, B; Grubbauer, HM; Popper, H; Smolle-Jüttner, F; Zach, M Late-onset miliary pneumonitis after near drowning.
Pediatr Pulmonol. 1993; 15(2):122-124 Doi: 10.1002/ppul.1950150210 (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

** Stöckler, S; Lackner, H; Ginter, G; Schwinger, W; Plecko, B; Müller, W Liposomal amphotericin-B (AmBisome) for treatment of cutaneous widespread candidosis in an infant with methylmalonic acidaemia.
Eur J Pediatr. 1993; 152(12):981-983 Doi: 10.1007/BF01957220 (- Case Report)
Web of Science PubMed FullText FullText_MUG

 

Short report/Letter

** Stöckler, S; Molzer, B; Plecko, B; Zenz, W; Muntean, W; Söling, U; Hunneman, DH; Korenke, C; Hanefeld, F Giant platelets in erucic acid therapy for adrenoleukodystrophy.
Lancet. 1993; 341(8857):1414-1415 Doi: 10.1016/0140-6736(93)90984-O
Web of Science PubMed FullText FullText_MUG Google Scholar

 

↑ Top of page / Navigation

© Med Uni Graz • Imprint