Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Mache Christoph |
** = Publikationen gelistet in SCI/SSCI/Pubmed
2024
Abstract (Zeitschrift)
** Acham-Roschitz, B; Mache, C; Tschauner, S; Angerer, S; Arbeiter, K; Aberle, S; Sever-Yildiz, G; Hubmann, H
Nephropathia epidemica in Austrian children
PEDIATR NEPHROL. 2024; 39(1):S216-S216.-56th ESPN Annual Meeting; SEP 24-27, 2024; Valencia, SPAIN.
[Poster]
Web of Science
2023
Originalarbeit (Zeitschrift)
** Azabdaftari, A; Sczakiel, HL; Danyel, M; Kohlmaier, B; Mache, CJ; Stalke, A; Pfister, ED; Thumfart, J; Henning, S; Knisely, AS; Bufler, P
Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype-genotype observations in four children.
Liver Int. 2023; 43(5):1089-1095
Doi: 10.1111/liv.15563
Web of Science
PubMed
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** Schigt, H; Bald, M; van, der, Eerden, BCJ; Gal, L; Ilenwabor, BP; Konrad, M; Levine, MA; Li, D; Mache, CJ; Mackin, S; Perry, C; Rios, FJ; Schlingmann, KP; Storey, B; Trapp, CM; Verkerk, AJMH; Zillikens, MC; Touyz, RM; Hoorn, EJ; Hoenderop, JGJ; de, Baaij, JHF
Expanding the phenotypic spectrum of Kenny-Caffey syndrome: a case series and systematic literature review.
J Clin Endocrinol Metab. 2023; dgad147
Doi: 10.1210/clinem/dgad147
[OPEN ACCESS]
Web of Science
PubMed
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2020
Originalarbeit (Zeitschrift)
** Bedin, M; Boyer, O; Servais, A; Li, Y; Villoing-Gaudé, L; Tête, MJ; Cambier, A; Hogan, J; Baudouin, V; Krid, S; Bensman, A; Lammens, F; Louillet, F; Ranchin, B; Vigneau, C; Bouteau, I; Isnard-Bagnis, C; Mache, CJ; Schäfer, T; Pape, L; Gödel, M; Huber, TB; Benz, M; Klaus, G; Hansen, M; Latta, K; Gribouval, O; Morinière, V; Tournant, C; Grohmann, M; Kuhn, E; Wagner, T; Bole-Feysot, C; Jabot-Hanin, F; Nitschké, P; Ahluwalia, TS; Köttgen, A; Andersen, CBF; Bergmann, C; Antignac, C; Simons, M
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.
J Clin Invest. 2020; 130(1):335-344
Doi: 10.1172/JCI129937
[OPEN ACCESS]
Web of Science
PubMed
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2019
Originalarbeit (Zeitschrift)
** Artinger, K; Hackl, G; Schilcher, G; Eisner, F; Pollheimer, MJ; Mache, C; Weiss, EC; Eller, K; Eller, P
The conundrum of postpartum thrombotic Microangiopathy: case report and considerations for management.
BMC Nephrol. 2019; 20(1):91-91
Doi: 10.1186/s12882-019-1286-1
[OPEN ACCESS]
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PubMed
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** Weber, T; Arbeiter, K; Ardelt, F; Auer, J; Aufricht, C; Brandt, MC; Dichtl, W; Ferrari, J; Föger, B; Henkel, M; Hohenstein-Scheibenecker, K; Horn, S; Kautzky-Willer, A; Kepplinger, E; Knoflach, M; Koppelstätter, C; Mache, C; Marschang, P; Mayer, G; Metzler, B; Oberbauer, R; Obermair, F; Obermayer-Pietsch, B; Perl, S; Pilz, S; Prischl, FC; Podczeck-Schweighofer, A; Rebhandl, E; Rohla, M; Roller-Wirnsberger, R; Saely, CH; Siostrzonek, P; Slany, J; Stoschitzky, K; Waldegger, S; Wenzel, RR; Weiss, T; Wirnsberger, G; Winhofer-Stöckl, Y; Zweiker, D; Zweiker, R; Watschinger, B; Österreichische Gesellschaft für Hypertensiologie; Österreichische Atherosklerosegesellschaft; Österreichische Diabetes Gesellschaft; Österreichische Gesellschaft für Internistische Angiologie; Österreichische Gesellschaft für Nephrologie; Österreichische Kardiologische Gesellschaft; Österreichische Gesellschaft für Neurologie; Österreichische Schlaganfall-Gesellschaft; Österr. Gesellschaft für Allgemeinmedizin; Österr. Gesellschaft für Geriatrie; Österreichische Gesellschaft für Endokrinologie und Stoffwechsel; Österreichische Gesellschaft für Innere Medizin; Österreichische Gesellschaft für Kinder- und Jugendheilkunde
[Austrian Consensus on High Blood Pressure 2019].
Wien Klin Wochenschr. 2019; 131(Suppl 6):489-590
Doi: 10.1007/s00508-019-01565-0
[OPEN ACCESS]
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PubMed
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Abstract (Zeitschrift)
** Geoffroy, V; Stoetzel, C; Scheidecker, S; Schaefer, E; Perrault, I; Bar, S; Kroll, A; Delbarre, M; Antin, M; Leuvrey, A; Henry, C; Blanche, H; Decker, E; Kloth, K; Klaus, G; Mache, C; Martin-Coignard, D; McGinn, S; Boland, A; Deleuze, J; Friant, S; Saunier, S; Rozet, J; Bergmann, C; Dollfus, H; Muller, J
Whole genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140
EUR J HUM GENET. 2019; 27: 867-868.-51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG); JUN 16-19, 2018; Milan, ITALY.
[Oral Communication]
Web of Science
2018
Originalarbeit (Zeitschrift)
** Geoffroy, V; Stoetzel, C; Scheidecker, S; Schaefer, E; Perrault, I; Bär, S; Kröll, A; Delbarre, M; Antin, M; Leuvrey, AS; Henry, C; Blanché, H; Decker, E; Kloth, K; Klaus, G; Mache, C; Martin-Coignard, D; McGinn, S; Boland, A; Deleuze, JF; Friant, S; Saunier, S; Rozet, JM; Bergmann, C; Dollfus, H; Muller, J
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.
HUM MUTAT. 2018; 39(7): 983-992.
Doi: 10.1002/humu.23539
[OPEN ACCESS]
Web of Science
PubMed
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2017
Originalarbeit (Zeitschrift)
** Holle, J; Lange-Sperandio, B; Mache, C; Oh, J; Pape, L; Schaefer, F; Vester, U; Weber, LT; Muller, D
Hemolytic uremic syndrome in childhood and adolescence
MONATSSCHR KINDERH. 2017; 165(11): 1005-1018.
Doi: 10.1007/s00112-017-0331-z
Web of Science
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** Stampfer, L; Deutschmann, A; Dür, E; Eitelberger, FG; Fürpass, T; Gorkiewicz, G; Heinz-Erian, P; Heller, I; Herzog, K; Hopfer, B; Kerbl, R; Klug, E; Krause, R; Leitner, E; Mache, C; Müller, T; Pansy, J; Pocivalnik, M; Scheuba, E; Schneditz, G; Schweintzger, G; Sterniczky, E; Zechner, E; Hauer, AC; Högenauer, C; Hoffmann, KM
Causes of hematochezia and hemorrhagic antibiotic-associated colitis in children and adolescents.
Medicine (Baltimore). 2017; 96(33):e7793-e7793
Doi: 10.1097/MD.0000000000007793
[OPEN ACCESS]
Web of Science
PubMed
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** Vidal, E; van Stralen, KJ; Chesnaye, NC; Bonthuis, M; Holmberg, C; Zurowska, A; Trivelli, A; Da Silva, JEE; Herthelius, M; Adams, B; Bjerre, A; Jankauskiene, A; Miteva, P; Emirova, K; Bayazit, AK; Mache, CJ; Sánchez-Moreno, A; Harambat, J; Groothoff, JW; Jager, KJ; Schaefer, F; Verrina, E; ESPN/ERA-EDTA Registry
Infants Requiring Maintenance Dialysis: Outcomes of Hemodialysis and Peritoneal Dialysis.
Am J Kidney Dis. 2017; 69(5):617-625
Doi: 10.1053/j.ajkd.2016.09.024
[OPEN ACCESS]
Web of Science
PubMed
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2016
Originalarbeit (Zeitschrift)
** Laghmani, K; Beck, BB; Yang, SS; Seaayfan, E; Wenzel, A; Reusch, B; Vitzthum, H; Priem, D; Demaretz, S; Bergmann, K; Duin, LK; Göbel, H; Mache, C; Thiele, H; Bartram, MP; Dombret, C; Altmüller, J; Nürnberg, P; Benzing, T; Levtchenko, E; Seyberth, HW; Klaus, G; Yigit, G; Lin, SH; Timmer, A; de Koning, TJ; Scherjon, SA; Schlingmann, KP; Bertrand, MJ; Rinschen, MM; de Backer, O; Konrad, M; Kömhoff, M
Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.
N Engl J Med. 2016; 374(19): 1853-1863.
Doi: 10.1056/NEJMoa1507629
(- Case Report)
[OPEN ACCESS]
Web of Science
PubMed
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2015
Originalarbeit (Zeitschrift)
** Eisenberger, T; Decker, C; Hiersche, M; Hamann, RC; Decker, E; Neuber, S; Frank, V; Bolz, HJ; Fehrenbach, H; Pape, L; Toenshoff, B; Mache, C; Latta, K; Bergmann, C
An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.
PLoS One. 2015; 10(2):e0116680-e0116680
Doi: 10.1371/journal.pone.0116680
[OPEN ACCESS]
Web of Science
PubMed
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** Roos, A; Weis, J; Korinthenberg, R; Fehrenbach, H; Häusler, M; Züchner, S; Mache, C; Hubmann, H; Auer-Grumbach, M; Senderek, J
Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons.
J Peripher Nerv Syst. 2015; 20(1):52-59
Doi: 10.1111/jns.12106
(- Case Report)
Web of Science
PubMed
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** Sadowski, CE; Lovric, S; Ashraf, S; Pabst, WL; Gee, HY; Kohl, S; Engelmann, S; Vega-Warner, V; Fang, H; Halbritter, J; Somers, MJ; Tan, W; Shril, S; Fessi, I; Lifton, RP; Bockenhauer, D; El-Desoky, S; Kari, JA; Zenker, M; Kemper, MJ; Mueller, D; Fathy, HM; Soliman, NA; SRNS Study Group; Hildebrandt, F
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
J Am Soc Nephrol. 2015; 26(6): 1279-1289.
Doi: 10.1681/ASN.2014050489
[OPEN ACCESS]
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Abstract (Zeitschrift)
** Eisenberger, T; Decker, C; Hiersche, M; Hamann, RC; Pape, L; Fehrenbach, H; Decker, E; Neuber, S; Frank, V; Bolz, HJ; Toenshoff, B; Mache, C; Latta, K; Bergmann, C
AN EFFICIENT AND COMPREHENSIVE STRATEGY FOR GENETIC DIAGNOSTICS OF POLYCYSTIC KIDNEY DISEASE.
NEPHROL DIAL TRANSPL. 2015; 30: -52nd Congress of the European-Renal-Association-European-Dialysis-and-Transplant-Assocation; MAY 28-31, 2015; London, ENGLAND.
Doi: 10.1093/ndt/gfv167.5
[Oral Communication]
Web of Science
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** Grohmann, M; Bachmann, N; Eisenberger, T; Hiersche, M; Decker, C; Bolz, H; Kemper, M; Mache, C; Vester, U; Sparta, G; Konrad, M; Fehrenbach, H; John, U; Gellermann, J; Haffner, K; Toenshoff, B; Pape, L; Menne, J; Bergmann, C; Bergmann, C
COMPANION DIAGNOSTICS BY COMPREHENSIVE TARGETED NGS WITH EVIDENCE FOR A THRESHOLD MODEL IN A COHORT OF 605 PATIENTS WITH ATYPICAL HAEMOLYTIC UREMIC SYNDROME AND HEREDITARY GLOMERULOPATHIES
PEDIATR NEPHROL. . 2015; 30(9):1666-1667.
[Oral Communication]
Web of Science
2014
Originalarbeit (Zeitschrift)
** Pansy, J; Mache, CJ; Zobel, G; Grangl, G; Ring, E; Hoffmann, KM
Cyanosis in a male Nigerian infant with acute kidney injury: answers.
Pediatr Nephrol. 2014; 29(6):1011-1013
Doi: 10.1007/s00467-013-2568-7
(- Case Report)
PubMed
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Übersichtsarbeit
** Vester, U; Mache, CJ
Pharmacological treatment of atypical hemolytic-uremic syndrome
EXPERT OPIN ORPHAN D. 2014; 2(2): 123-135.
Doi: 10.1517/21678707.2014.872029
Web of Science
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Abstract (Zeitschrift)
** Vidal, E; Van Stralen, KJ; Schaefer, F; Adams, B; Bjerre, A; Dusunsel, R; Emirova, KM; Da Silva, JEE; Herthelius, M; Holmberg, C; Jankauskiene, A; Mache, CJ; Miteva, P; Sanchez-Moreno, A; Trivelli, A; Zurowska, A; Groothoff, JW; Jager, K; Verrina, E
CLINICAL CHARACTERISTICS AND OUTCOMES OF INFANTS ON CHRONIC DIALYSIS
NEPHROL DIAL TRANSPL. 2014; 29: 7-7.-51st Congress of the European-Renal-Association(ERA)/European-Dialysis-and-Transplant-Association (EDTA); MAY 31-JUN 03, 2014; Amsterdam, NETHERLANDS.
[Oral Communication]
Web of Science
Kommentar
** Pansy, J; Mache, CJ; Zobel, G; Grangl, G; Ring, E; Hoffmann, KM
Cyanosis in a male Nigerian infant with acute kidney injury: questions.
Pediatr Nephrol. 2014; 29(6):1009-1009
Doi: 10.1007/s00467-013-2566-9
[OPEN ACCESS]
Web of Science
PubMed
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2013
Originalarbeit (Zeitschrift)
** Beck, BB; Baasner, A; Buescher, A; Habbig, S; Reintjes, N; Kemper, MJ; Sikora, P; Mache, C; Pohl, M; Stahl, M; Toenshoff, B; Pape, L; Fehrenbach, H; Jacob, DE; Grohe, B; Wolf, MT; Nürnberg, G; Yigit, G; Salido, EC; Hoppe, B
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.
Eur J Hum Genet. 2013; 21(2):162-172
Doi: 10.1038/ejhg.2012.139
[OPEN ACCESS]
Web of Science
PubMed
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** Eggermann, T; Spengler, S; Denecke, B; Zerres, K; Mache, CJ
Multi-exon deletion in the XDH gene as a cause of classical xanthinuria.
Clin Nephrol. 2013; 79(1):78-80
Doi: 10.5414/CN106994
(- Case Report)
Web of Science
PubMed
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** Rodriguez, PQ; Lohkamp, B; Celsi, G; Mache, CJ; Auer-Grumbach, M; Wernerson, A; Hamajima, N; Tryggvason, K; Patrakka, J
Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy.
Pediatr Nephrol. 2013; 28(2):339-343
Doi: 10.1007/s00467-012-2299-1
(- Case Report)
Web of Science
PubMed
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** Schmidts, M; Frank, V; Eisenberger, T; Al Turki, S; Bizet, AA; Antony, D; Rix, S; Decker, C; Bachmann, N; Bald, M; Vinke, T; Toenshoff, B; Di Donato, N; Neuhann, T; Hartley, JL; Maher, ER; Bogdanović, R; Peco-Antić, A; Mache, C; Hurles, ME; Joksić, I; Guć-Šćekić, M; Dobricic, J; Brankovic-Magic, M; Bolz, HJ; Pazour, GJ; Beales, PL; Scambler, PJ; Saunier, S; Mitchison, HM; Bergmann, C
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.
Hum Mutat. 2013; 34(5):714-724
Doi: 10.1002/humu.22294
[OPEN ACCESS]
Web of Science
PubMed
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Kurzbericht/Letter
** Portugaller, RH; Mache, C; Tiesenhausen, K; Hebel, P; Deutschmann, H
Fibromuscular dysplasia-related aneurysms: one-year follow-up after treatment with a flow-diverting stent.
J Vasc Interv Radiol. 2013; 24(6):915-918
Doi: 10.1016/j.jvir.2013.02.020
(- Case Report)
Web of Science
PubMed
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Abstract (Zeitschrift)
** Rodl, S; Marschitz, I; Mache, CJ; Wendelin, G; Zobel, G;
Long Time Experience of CRRT with the Prismaflex HF 20 Set in Infants and Children.
PEDIAT NEPHROL. 2013; 28(1):183-183.-1st international Symposium on AKI in Children at the 7th International Conference on Pediatric Continuous Renal Replacement therapy; September 27 30, 2012; Cincinnati, Ohio, USA. .
[Poster]
Web of Science
** Rodl, S; Marschitz, I; Mache, CJ; Wendelin, G; Zobel, G;
Outcome of Pediatric Patients with Sepsis and MODS requiring CRRT.
PEDIAT NEPHROL. 2013; 28(1):182-182.-1st international Symposium on AKI in Children at the 7th International Conference on Pediatric Continuous Renal Replacement therapy; September 27 30, 2012; Cincinnati, Ohio, USA.
[Poster]
Web of Science
** Rodl, S; Marschitz, I; Mache, CJ; Wendelin, G; Zobel, G;
Citrate Anticoagulation with the Prismaflex HF 20 Set.
PEDIAT NEPHROL. 2013; 28(1):183-183.-Conference on Pediatric Continuous Renal Replacement therapy;; September 27 30, 2012; Cincinnati, Ohio.
[Poster]
Web of Science
2012
Originalarbeit (Zeitschrift)
** Rödl, S; Marschitz, I; Mache, CJ; Nagel, B; Koestenberger, M; Zobel, G
Hemodiafiltration in infants with complications during peritoneal dialysis.
Artif Organs. 2012; 36(7): 590-593.
Doi: 10.1111/j.1525-1594.2011.01434.x
(- Case Report)
Web of Science
PubMed
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2011
Originalarbeit (Zeitschrift)
** Rödl, S; Marschitz, I; Mache, CJ; Koestenberger, M; Madler, G; Rehak, T; Zobel, G
First experience with the Prismaflex HF 20 set in four infants.
Int J Artif Organs. 2011; 34(1): 10-15.
Doi: 10.5301/IJAO.2011.6315
[OPEN ACCESS]
Web of Science
PubMed
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** Rodl, S; Marschitz, I; Mache, CJ; Koestenberger, M; Madler, G; Zobel, G
Continuous Renal Replacement Therapy With Prismaflex HF20 Disposable Set in Children From 4 to 15 kg
ASAIO J. 2011; 57(5): 451-455.
Doi: 10.1097/MAT.0b013e31822d2132
[OPEN ACCESS]
Web of Science
PubMed
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Kurzbericht/Letter
** Rödl, S; Marschitz, I; Mache, CJ; Koestenberger, M; Madler, G; Rehak, T; Zobel, G
One-year safe use of the Prismaflex HF20(®) disposable set in infants in 220 renal replacement treatment sessions.
Intensive Care Med. 2011; 37(5):884-885
Doi: 10.1007/s00134-011-2147-y
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2010
Originalarbeit (Zeitschrift)
** Acham-Roschitz, B; Aberle, SW; Pirker, N; Kaulfersch, W; Boehm, M; Roedl, S; Zenz, W; Ring, E; Mache, CJ
Nephropathia epidemica (puumala virus infection) in Austrian children.
Pediatr Infect Dis J. 2010; 29(9):874-876
Doi: 10.1097/INF.0b013e3181dfbbe5
Web of Science
PubMed
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Google Scholar
** Strobel, S; Hoyer, PF; Mache, CJ; Sulyok, E; Liu, WS; Richter, H; Oppermann, M; Zipfel, PF; Józsi, M
Functional analyses indicate a pathogenic role of factor H autoantibodies in atypical haemolytic uraemic syndrome.
Nephrol Dial Transplant. 2010; 25(1): 136-144.
Doi: 10.1093/ndt/gfp388
[OPEN ACCESS]
Web of Science
PubMed
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** Zipfel, PF; Mache, C; Müller, D; Licht, C; Wigger, M; Skerka, C; for the European DEAP-HUS Study Group
DEAP-HUS: Deficiency of CFHR plasma proteins and autoantibody-positive form of hemolytic uremic syndrome.
Pediatr Nephrol. 2010; 25(10): 2009-2019.
Doi: 10.1007/s00467-010-1446-9
Web of Science
PubMed
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Fallbericht
** Köse, O; Zimmerhackl, LB; Jungraithmayr, T; Mache, C; Nürnberger, J
New treatment options for atypical hemolytic uremic syndrome with the complement inhibitor eculizumab.
Semin Thromb Hemost. 2010; 36(6):669-672
Doi: 10.1055/s-0030-1262889
(- Case Report)
Web of Science
PubMed
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Abstract (Zeitschrift)
** Al-Ali, BEM; Hebel, P; Pummer, K; Zigeuner, R; Mache, C
23 CASES OF PAEDIATRIC RENAL TRANSPLANTATION ONE CENTER OWN EXPERIENCE, WITH A LONG TIME FOLLOW-UP
EUR UROL SUPPL. 2010; 9(6):647-647.-25th Anniversary EAU Congress; APR 16-20, 2010; Barcelona, SPAIN.
[Poster]
Web of Science
** Rodl, S; Marschitz, I; Mache, CJ; Koestenberger, M; Madler, G; Rehak, T; Zobel, G
First Clinical Report of CRRT with the Prismaflex HF 20 Set in an Infant
PEDIAT NEPHROL. 2010; 25(8): 21
[Poster]
Web of Science
** Rodl, S; Marschitz, I; Mache, CJ; Koestenberger, M; Madler, G; Rehak, T; Zobel, G
Initial Clinical Experience with the Prismaflex HF 20 Set in Four Infants
PEDIAT NEPHROL. 2010; 25(8): 20
[Poster]
Web of Science
** Rodl, S; Marschitz, I; Mache, CJ; Koestenberger, M; Madler, G; Rehak, T; Zobel, G
Hemodiafiltration in infants with end-stage renal failure and complications on peritoneal dialyses
PEDIAT NEPHROL. 2010; 25(8): 22
[Poster]
Web of Science
** Rodl, S; Marschitz, I; Mache, CJ; Kostenberger, M; Madler, G; Rehak, T; Zobel, G
First clinical experiences on the renal replacement therapy with the Prismaflex HF 20 Set of four infants and toddlers.
KLIN PADIAT. 2010; 222: S108-S108.
[Poster]
Web of Science
** Rodl, S; Marschitz, I; Rehak, T; Mache, CJ; Kostenberger, M; Madler, G; Zobel, G
Hemodiafiltration in infants with end-stage renal failure and complications of peritoneal dialysis.
KLIN PADIAT. 2010; 222: S14-S14.
[Poster]
Web of Science
2009
Originalarbeit (Zeitschrift)
** 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
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** Mache, CJ; Acham-Roschitz, B; Frémeaux-Bacchi, V; Kirschfink, M; Zipfel, PF; Roedl, S; Vester, U; Ring, E
Complement inhibitor eculizumab in atypical hemolytic uremic syndrome.
Clin J Am Soc Nephrol. 2009; 4(8):1312-1316
Doi: 10.2215/CJN.01090209
(- Case Report)
[OPEN ACCESS]
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PubMed
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Abstract (Zeitschrift)
** Acham-Roschitz, BA; Roedl, SR; Haberlik, AH; Gurtl-Lackner, BG; Mache, CJM; Ring, ER
Bilateral nephrectomy and CVVHDF in a neonate with autosomal recessive polycystic kidney disease (ARPKD).
PEDIAT NEPHROL. 2009; 24(4):893-893.-Pediatric Nephrology Spring Meeting 2009; MAR 28-31 2009; Amsterdam, The Netherlands.
[Poster]
Web of Science
** Mache, CJ; Aberle, SW; Pirker, N; Kaulfersch, W; Boehm, M; Roedl, S; Acham-Roschitz, B; Zenz, W; Ring, E
Nephropathia epidemica (Puumala virus infection) in Austrian children.
PEDIAT NEPHROL. 2009; 24(4):890-890.-Pediatric Nephrology Spring Meeting 2009; MAR 28-31 2009; Amsterdam, The Netherlands.
[Poster]
Web of Science
** Mache, CJ; Acham-Roschitz, B; Fremeaux-Bacchi, V; Kirschfink, M; Zipfel, PF; Roedl, S; Vester, U; Ring, E
Protective effect of the complement inhibitor eculizumab in an adolescent with atypical hemolytic uremic syndrome.
PEDIAT NEPHROL. 2009; 24(4):908-908.-Pediatric Nephrology Spring Meeting 2009; MAR 28-31, 2009; Amsterdam, The Netherlands.
[Poster]
Web of Science
2008
Originalarbeit (Zeitschrift)
** Mache, CJ; Gamillscheg, A; Popper, HH; Haworth, SG
Early-life pulmonary arterial hypertension with subsequent development of diffuse pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia type 1.
THORAX. 2008; 63(1): 85-86.
Doi: 10.1136/thx.2007.076109
(- Case Report)
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Abstract (Zeitschrift)
** Strobel, S; Hoyer, PF; Mache, CJ; Sulyok, E; Zipfel, PF; Jozsi, M
Functional studies indicate a direct pathogenic role of autoantibodies in atypical haemolytic uraemic syndrome by inhibiting factor H cell protective activity.
MOL IMMUNOL. 2008; 45(16):O15--ICW Basel, XXII International Complement Workshop; SEP 28-OCT 02, 2008; Basel, SWITZERLAND.
Doi: 10.1016/j.molimm.2008.08.016
[Oral Communication]
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** Strobel, S; Hoyer, PF; Mache, CJ; Sulyok, E; Zipfel, PF; Jozsi, M
Functional analyses indicate pathogenic role of factor H autoantibodies in atypical hemolytic uremic syndrome.
WIEN KLIN WOCHENSCHR. 2008; 120: 57-57.-Joint Annual Meeting of Immunology of the Austrian and German Societies (ÖGAI, DGfI); Sept 3-6, 2008; Vienna, AUSTRIA.
[Poster]
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Originalarbeit (Konferenzband)
** Acham-Roschitz, B; Mache, CJ; Muller, W; Riccabona, M; Ring, E; Muntean, W
Renal thrombosis in two neonates with MTHFR-mutation
HAMOSTASEOLOGIE. 2008; 28: S70-S71.
Doi: 10.1055/s-0037-1621427
[Oral Communication]
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2007
Originalarbeit (Zeitschrift)
** Ali, A; Christie, PT; Grigorieva, IV; Harding, B; Van Esch, H; Ahmed, SF; Bitner-Glindzicz, M; Blind, E; Bloch, C; Christin, P; Clayton, P; Gecz, J; Gilbert-Dussardier, B; Guillen-Navarro, E; Hackett, A; Halac, I; Hendy, GN; Lalloo, F; Mache, CJ; Mughal, Z; Ong, AC; Rinat, C; Shaw, N; Smithson, SF; Tolmie, J; Weill, J; Nesbit, MA; Thakker, RV
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.
HUM MOL GENET. 2007; 16(3): 265-275.
Doi: 10.1093/hmg/ddl454
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** Mache, CJ; Roschitz, B; Ring, E
Erythropoiesis-stimulating agents in pediatric nephrology
MONATSSCHR KINDERHEILK. 2007; 155(12): 1137-+.
Doi: 10.1007/s00112-007-1618-2
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** Pichler, G; Rödl, S; Mache, C; Trop, M; Ring, E; Zobel, G
Two decades' experience of renal replacement therapy in paediatric patients with acute renal failure.
Eur J Pediatr. 2007; 166(2): 139-144.
Doi: 10.1007/s00431-006-0213-1
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Kurzbericht/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)
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Abstract (Zeitschrift)
** Mache, C; Roedl, S; Konrad, M; Roschitz, B; Ring, E
Xanthogranulomatous pyelonephritis in familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC).
PEDIAT NEPHROL. 2007; 22(9):1496-1496.-14th Congress of the International Pediatric Nephrology Association (IPNA); Aug 31-Sept 4, 2007; Budapest, Hungary.
[Poster]
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2006
Originalarbeit (Zeitschrift)
** Mache, CJ; Schwinger, W; Spendel, S; Zach, O; Regauer, S; Ring, E
Skin transplantation to monitor clinical donor-related tolerance in mixed hematopoietic chimerism.
PEDIATR TRANSPLANT. 2006; 10(1): 128-131.
Doi: 10.1111/j.1399-3046.2005.00412.x
(- Case Report)
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Korrespondenz
** Mache, CJ; Ring, E
The authors' reply to the comments by Urban et al. on 'Skin transplantation to monitor clinical donor-related tolerance in mixed hematopoietic chimerism' (Pediatr Transplant 2006; 10: 128-131).
PEDIATR TRANSPLANT. 2006; 10: 751-752.
Doi: 10.1111/j.1399-3046.2006.00552.x
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2005
Originalarbeit (Zeitschrift)
** Deutschmann, A; Mache, CJ; Bodo, K; Zebedin, D; Ring, E
Successful treatment of chronic recurrent multifocal osteomyelitis with tumor necrosis factor-alpha blockage.
PEDIATRICS. 2005; 116(5): 1231-1233.
Doi: 10.1542/peds.2004-2206
(- Case Report)
[OPEN ACCESS]
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** Grif, K; Orth, D; Lederer, I; Berghold, C; Roedl, S; Mache, CJ; Dierich, MP; Würzner, R
Importance of environmental transmission in cases of EHEC O157 causing hemolytic uremic syndrome.
EUR J CLIN MICROBIOL INFECT D. 2005; 24(4): 268-271.
Doi: 10.1007/s10096-005-1320-z
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** Harrison, RE; Berger, R; Haworth, SG; Tulloh, R; Mache, CJ; Morrell, NW; Aldred, MA; Trembath, RC
Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood.
CIRCULATION. 2005; 111(4): 435-441.
Doi: 10.1161/01.CIR.0000153798.78540.87
[OPEN ACCESS]
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** Riccabona, M; Fritz, GA; Schöllnast, H; Schwarz, T; Deutschmann, MJ; Mache, CJ
Hydronephrotic kidney: pediatric three-dimensional US for relative renal size assessment--initial experience.
Radiology. 2005; 236(1):276-283
Doi: 10.1148/radiol.2361040158
[OPEN ACCESS]
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2004
Abstract (Zeitschrift)
** Orth, D; Grif, K; Lederer, I; Berghold, C; Rödl, S; Mache, CJ; Dierich, MP; Wurzner, R
Importance of environmental transmission of EHEC causing hemolytic uremic syndrome
INT J MED MICROBIOL 2004 294: 123-123.
Web of Science
2003
Originalarbeit (Zeitschrift)
** Allerberger, F; Friedrich, AW; Grif, K; Dierich, MP; Dornbusch, HJ; Mache, CJ; Nachbaur, E; Freilinger, M; Rieck, P; Wagner, M; Caprioli, A; Karch, H; Zimmerhackl, LB
Hemolytic-uremic syndrome associated with enterohemorrhagic Escherichia coli O26:H infection and consumption of unpasteurized cow's milk.
Int J Infect Dis. 2003; 7(1): 42-45.
Doi: 10.1016/S1201-9712(03)90041-5
(- Case Report)
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** Riccabona, M; Mache, CJ; Lindbichler, F
Echo-enhanced color Doppler cystosonography of vesicoureteral reflux in children. Improvement by stimulated acoustic emission.
Acta Radiol. 2003; 44(1):18-23
Doi: 10.1034%2Fj.1600-0455.2003.00017.x
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2002
Originalarbeit (Zeitschrift)
** Mache, CJ; Preisegger, KH; Kopp, S; Ratschek, M; Ring, E
De novo HNF-1 beta gene mutation in familial hypoplastic glomerulocystic kidney disease.
Pediatr Nephrol. 2002; 17(12):1021-1026
Doi: 10.1007/s00467-002-0975-2
(- Case Report)
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** Ring, E; Mache, CJ; Vilits, P
Future expectations--what paediatric nephrologists and urologists await from paediatric uroradiology.
Eur J Radiol. 2002; 43(2):94-99
Doi: 10.1016%2FS0720-048X%2802%2900117-1
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1998
Originalarbeit (Zeitschrift)
** Resch, B; Mache, CJ; Windhager, T; Holzer, H; Leitner, G; Müller, W
FK 506 and successful pregnancy in a patient after renal transplantation.
TRANSPLANT PROC 1998 30: 163-164.
Doi: 10.1016%2FS0041-1345%2897%2901220-7
(- Case Report)
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** Zebedin, D; Fotter, R; Reittner, P; Preidler, KW; Mache, C; Szolar, DH
Chronic recurrent multifocal osteomyelitis of the lower jaw
ROFO, FORTSCHR RONTGENSTRAHL. 1998; 169: 551-554.
Doi: 10.1055/s-2007-1015337
(- Case Report)
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Kurzbericht/Letter
** Mache, CJ; Muntean, W; Resch, B; Ring, E
Prothrombin fragment 1+2 during oral anticoagulation in congenital nephrotic syndrome.
Pediatr Nephrol. 1998; 12(7):617-617
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1996
Originalarbeit (Zeitschrift)
** Mache, CJ; Beitzke, A; Haidvogl, M; Gamillscheg, A; Suppan, C; Stein, JI
Perinatal manifestations of idiopathic long QT syndrome.
Pediatr Cardiol. 1996; 17(2):118-121
Doi: 10.1007%2Fs002469900026
(- Case Report)
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** Mache, CJ; Goriup, U; Fischel-Ghodsian, N; Chen, X; Schwingshandl, J
Autosomal dominant familial Mediterranean fever--like syndrome.
Eur J Pediatr. 1996; 155(9):787-790
Doi: 10.1007%2FBF02002908
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1995
Originalarbeit (Zeitschrift)
** Resch, B; Mache, C; Rosegger, H; Häusler, M
Neonatal hyperthyroidism caused by TSH receptor antibodies in maternal autoimmune hyperthyroidism
Z Geburtshilfe Neonatol. 1995; 199(6): 248-252.
(- Case Report)
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Kurzbericht/Note
** MACHE, CJ; SCHWINGSHANDL, J; KUTSCHERA, J; ROSEGGER, H; BORKENSTEIN, M
TRANSIENT NEONATAL DIABETES-MELLITUS AND MACROGLOSSIA
MONATSSCHR KINDERHEILK. 1995; 143(10): 972-974.
Web of Science
** Schwinger, W; Urban, C; Mache, CJ; Resch, B; Lackner, H; Höfler, G; Beham-Schmid, C; Gilli, R; Wagner, K; Haas, OA
Adoptive immunotransfer with viable donor mononuclear cells for recurrent chronic myelogenous leukemia after allogeneic bone marrow transplantation in two children.
Pediatr Hematol Oncol. 1995; 12(1):47-54
Doi: 10.3109/08880019509029527
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1994
Originalarbeit (Zeitschrift)
** Mache, CJ; Slavc, I; Schmid, C; Hoefler, G; Urban, CE; Schwinger, W; Winter, E; Hulla, W; Zenz, W; Holter, W
Familial hemophagocytic lymphohistiocytosis associated with disseminated T-cell lymphoma: a report of two siblings.
Ann Hematol. 1994; 69(2):85-91
Doi: 10.1007/BF01698488
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** Popper, HH; Zenz, W; Mache, C; Ohlinger, W
Familial haemophagocytic lymphohistiocytosis. A report of three cases with unusual lung involvement.
Histopathology. 1994; 25(5):439-445
Doi: 10.1111/j.1365-2559.1994.tb00005.x
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Kurzbericht/Letter
** Muntean, W; Mache, CJ
Haemophilus-Influenzae Type-B (Hib) Meningitis in a 14-Month-Old Child Following a Primary Immunization Series with Hib Conjugate Vaccine (PRP-D) - Reply
WIEN KLIN WOCHENSCHR. 1994; 106: 213-214.
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** Mache, CJ; Schwingshandl, J; Ring, E; Pfleger, A; Borkenstein, MH
Amyloid goiter in a child with familial Mediterranean fever.
J PEDIAT ENDOCRINOL. 1994; 7(4): 371-372.
Doi: 10.1515/JPEM.1994.7.4.371
(- Case Report)
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1993
Originalarbeit (Zeitschrift)
** Muntean, W; Mache, CJ; SPORK; IOANNOU; MUNTEAN; MUTZ; ZENZ; WEITZER; SCHWINGER; MUNTEAN
Haemophilus influenzae type B (Hib) meningitis in a 14-month-old child despite two vaccinations with Hib conjugate vaccine (PRP-D)
WIEN KLIN WOCHENSCHR. 1993; 105(18): 523-526.
(- Case Report)
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** Schwinger, W; Mache, C; Urban, C; Beaufort, F; Töglhofer, W
Single dose of filgrastim (rhG-CSF) increases the number of hematopoietic progenitors in the peripheral blood of adult volunteers.
Bone Marrow Transplant. 1993; 11(6):489-492
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** Schwinger, W; Urban, C; Lackner, H; Mache, C
Treatment of aplastic anemia with a monoclonal antibody directed against the interleukin-2 receptor.
Ann Hematol. 1993; 66(4):181-184
Doi: 10.1007/BF01703233
(- Case Report)
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** Urban, CE; Mache, CJ; Schwinger, W; Pakisch, B; Ranner, G; Riccabona, M; Schimpl, G; Brandesky, G; Messner, H; Pobegen, W
Undifferentiated (embryonal) sarcoma of the liver in childhood. Successful combined-modality therapy in four patients.
Cancer. 1993; 72(8):2511-2516
Doi: 10.1002/1097-0142(19931015)72:8<2511::AID-CNCR2820720833>3.0.CO;2-M
(- Case Report)
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Kurzbericht/Note
** Mache, CJ; Schwingshandl, J; Riccabona, M; Ranner, G; Ring, E; Fock, C; Ratschek, M; Malle, E; Borkenstein, MH
Ultrasound and MRI findings in a case of childhood amyloid goiter.
Pediatr Radiol. 1993; 23(7):565-566
Doi: 10.1007/BF02012155
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** Schwingshandl, J; Mache, CJ; Rath, K; Borkenstein, MH
SHORT syndrome and insulin resistance.
AMER J MED GENET. 1993; 47(6): 907-909.
Doi: 10.1002/ajmg.1320470619
(- Case Report)
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1991
Originalarbeit (Zeitschrift)
** Beitzke, A; Mache, CJ; Stein, JI; Suppan, C
Complications of two series of 1000 each heart catheterization studies in childhood
WIEN KLIN WOCHENSCHR. 1991; 103(3): 75-81.
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