Medizinische Universität Graz - Research portal
Kroepfl Thomas |
** = Publications listed in SCI/SSCI/Pubmed
2009
Full paper/article (Journal)
** Jones, SA; Almassy, Z; Beck, M; Burt, K; Clarke, JT; Giugliani, R; Hendriksz, C; Kroepfl, T; Lavery, L; Lin, SP; Malm, G; Ramaswami, U; Tincheva, R; Wraith, JE
Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS)
J INHERIT METAB DIS. 2009; 32(4): 534-543.
Doi: 10.1007/s10545-009-1119-7
Web of Science
PubMed
FullText
FullText_MUG
2008
Full paper/article (Journal)
** 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
2007
Abstract (Journal)
** Beck, M; Giugliani, R; Burton, BK; Muenzer, J; Clarke, JT; De Meirleir, L; Kroepfl, T; Malm, G; Wraith, JE
Early presentation and diagnosis of Hunter syndrome: New insights from HOS - The Hunter Outcome Survey
J INHERIT METAB DIS. 2007; 30: 98-98.
[Poster]
Web of Science
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
2002
Full paper/article (Journal)
** 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
2001
Full paper/article (Journal)
** Diep Tran, T; Kroepfl, T; Saito, M; Nagura, M; Ichiseki, H; Kubota, M; Toda, T; Sakakihara, Y
The gene copy ratios of SMN1/SMN2 in Japanese carriers with type I spinal muscular atrophy.
BRAIN DEVELOP 2001 23: 321-326.
Doi: 10.1016%2FS0387-7604%2801%2900234-0
Web of Science
PubMed
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