K Paul
University of Graz
13 Papers
10 Citations
K Paul is an academic researcher from University of Graz. The author has contributed to research in topics: Pyridoxine & Pyridoxine-dependent epilepsy. The author has an hindex of 8, co-authored 13 publications. Previous affiliations of K Paul include Medical University of Graz.
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Papers
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene†
Barbara Plecko,K Paul,Eduard Paschke,Sylvia Stoeckler-Ipsiroglu,Eduard A. Struys,Cornelis Jakobs,Hans Hartmann,Thomas Luecke,Matteo Di Capua,Christoph Korenke,Christiane Hikel,Elke Reutershahn,Michael Freilinger,Fritz A.M. Baumeister,Friedrich Bosch,Wolfgang Erwa +15 more
TL;DR: Administration of pyridoxine in PDE may not only correct secondary PLP deficiency, but may also lead to a reduction of AASA (and P6C) as presumably toxic compounds.
165
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
Doris Hofer,K Paul,Katrin Fantur,Michael Beck,Friederike Bürger,Catherine Caillaud,Ksenija Fumić,Jana Ledvinová,Agnieszka Lugowska,Helen Michelakakis,Briguita Radeva,Uma Ramaswami,Barbara Plecko,Eduard Paschke +13 more
TL;DR: In 25 multiethnic patients with GM1 or MBD, 11 missense mutations were found as well as one novel insertion and a transversion causing aberrant gene products, all of which resulted in significantly reduced β‐Gal activities upon expression in COS‐1 cells.
47
Anderson–Fabry disease: a case‐finding study among male kidney transplant recipients in Austria
Julia Kleinert,Peter Kotanko,Marco Spada,Severo Pagliardini,Eduard Paschke,K Paul,Till Voigtländer,Manfred Wallner,Reinhard Kramar,Hans Krister Stummvoll,Christoph Schwarz,Sabine Horn,Herwig Holzer,Manuela Födinger,Gere Sunder-Plassmann +14 more
TL;DR: This study is the first showing that a diagnosis of Anderson–Fabry disease can be missed even in patients who undergo kidney transplantation, and case‐finding strategies may be considered a useful tool for diagnosis of this rare disease.
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Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness.
TL;DR: Despite the delay in diagnosis and prolonged status epilepticus, a male proband with pyridoxine-dependent epilepsy (PDE) and neonatal seizure onset demonstrated full-scale IQ of 93 and 92, respectively, with better verbal IQ than performance IQ.
43
Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination
Heather C Mefford,Matthew Zemel,Eileen Geraghty,Joseph Cook,Peter E. Clayton,K Paul,Barbara Plecko,Philippa B. Mills,Douglas R. Nordli,Douglas R. Nordli,Sidney M. Gospe,Sidney M. Gospe +11 more
TL;DR: In this paper, the role of intragenic deletions of ALDH7A1 in patients with clinical and biochemical evidence of pyridoxine-dependent epilepsy but only a single identifiable mutation in ALDH 7A1 was investigated.