Karl Paul

Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene

Barbara Plecko, Karl Paul, Eduard Paschke et al. · Human Mutation · 2006 · 167 citations

Medicine, Neurology, Pharmacology +15

Pyridoxine responsiveness in novel mutations of the <i>PNPO</i> gene

Barbara Plecko, Karl Paul, Philippa B. Mills et al. · Neurology · 2014 · 98 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid β-galactosidase

Doris Hofer, Karl Paul, Katrin Fantur et al. · Human Mutation · 2009 · 53 citations

Life Sciences, Genetics, Molecular Genetics +13

Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria

Julia Kleinert, Peter Kotanko, Marco Spada et al. · Transplant International · 2009 · 39 citations

Medicine, Nephrology, Kidney Transplantation +7

Intragenic deletions of <i>ALDH7A1</i> in pyridoxine-dependent epilepsy caused by <i>Alu</i> - <i>Alu</i> recombination

Heather C. Mefford, Matthew Zemel, Eileen Geraghty et al. · Neurology · 2015 · 34 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16