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Johannes Zschocke
Johannes Zschocke
Unknown affiliation
Verified email at i-med.ac.at
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Year
The 2017 international classification of the Ehlers–Danlos syndromes
F Malfait, C Francomano, P Byers, J Belmont, B Berglund, J Black, ...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2017
15802017
A survey of tools for variant analysis of next-generation genome sequencing data
S Pabinger, A Dander, M Fischer, R Snajder, M Sperk, M Efremova, ...
Briefings in bioinformatics 15 (2), 256-278, 2014
7562014
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype
P Guldberg, F Rey, J Zschocke, V Romano, B François, L Michiels, ...
The American Journal of Human Genetics 63 (1), 71-79, 1998
4861998
Carnosine as a Protective Factor in Diabetic Nephropathy: Association With a Leucine Repeat of the Carnosinase Gene CNDP1
B Janssen, D Hohenadel, P Brinkkoetter, V Peters, N Rind, C Fischer, ...
Diabetes 54 (8), 2320-2327, 2005
3722005
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase
PB Mills, RAH Surtees, MP Champion, CE Beesley, N Dalton, ...
Human molecular genetics 14 (8), 1077-1086, 2005
3512005
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency
S Kölker, SF Garbade, CR Greenberg, JV Leonard, JM Saudubray, ...
Pediatric research 59 (6), 840-847, 2006
2992006
Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency
GF Hoffmann, S Athanassopoulos, AB Burlina, M Duran, JBC De Klerk, ...
Neuropediatrics 27 (03), 115-123, 1996
2971996
Phenylketonuria mutations in Europe
J Zschocke
Human mutation 21 (4), 345-356, 2003
2662003
Molecular genetics of tetrahydrobiopterin‐responsive phenylalanine hydroxylase deficiency
MR Zurflüh, J Zschocke, M Lindner, F Feillet, C Chery, A Burlina, ...
Human mutation 29 (1), 167-175, 2008
2442008
Treatment recommendations in long‐chain fatty acid oxidation defects: consensus from a workshop
U Spiekerkoetter, M Lindner, R Santer, M Grotzke, MR Baumgartner, ...
Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2009
2322009
The Ehlers–Danlos syndromes, rare types
AF Brady, S Demirdas, S Fournel‐Gigleux, N Ghali, C Giunta, ...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2017
2152017
MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls
B Janssen, C Hartmann, V Scholz, A Jauch, J Zschocke
Neurogenetics 6, 29-35, 2005
2132005
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision
N Boy, C Mühlhausen, EM Maier, J Heringer, B Assmann, P Burgard, ...
Journal of inherited metabolic disease 40, 75-101, 2017
2072017
Use of guidelines improves the neurological outcome in glutaric aciduria type I
J Heringer, SPN Boy, R Ensenauer, B Assmann, J Zschocke, I Harting, ...
Annals of neurology 68 (5), 743-752, 2010
1982010
The genetic landscape and epidemiology of phenylketonuria
A Hillert, Y Anikster, A Belanger-Quintana, A Burlina, BK Burton, ...
The American Journal of Human Genetics 107 (2), 234-250, 2020
1872020
Mutation analysis in glutaric aciduria type I
J Zschocke, E Quak, P Guldberg, GF Hoffmann
Journal of medical genetics 37 (3), 177-181, 2000
1842000
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I
I Harting, E Neumaier-Probst, A Seitz, EM Maier, B Assmann, I Baric, ...
Brain 132 (7), 1764-1782, 2009
1822009
Management and outcome in 75 individuals with long‐chain fatty acid oxidation defects: results from a workshop
U Spiekerkoetter, M Lindner, R Santer, M Grotzke, MR Baumgartner, ...
Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2009
1802009
Glutaric aciduria type I: from clinical, biochemical and molecular diversity to successful therapy
GF Hoffmann, J Zschocke
Journal of inherited metabolic disease 22 (4), 381-391, 1999
1731999
Inherited metabolic diseases
GF Hoffmann, WL Nyhan, J Zschocke, E Mayatepek, SG Kahler, ...
Lippincott Williams & Wilkins, 2002
1652002
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