Affiliation: Medical University of Graz
- Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsyB Plecko
Department of Pediatrics, University Hospital Graz, Graz, Austria
Neuropediatrics 36:200-5. 2005..It will in addition prevent patients with pyridoxine-dependent epilepsy from experiencing potentially dangerous pyridoxine-withdrawal, which until now has been necessary to prove the diagnosis...
- Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient ratsB Plecko
Department of Pediatrics, University Hospital Graz, Austria
J Inherit Metab Dis 28:689-93. 2005....
- Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) geneBarbara Plecko
Department of Pediatrics, Medical University Graz, Graz, Austria
Hum Mutat 28:19-26. 2007..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...
- Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsyM Schuelke
Nat Genet 21:260-1. 1999
- Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in AustriaD Möslinger
Department of Paediatrics, University Hospital Vienna, Austria
Eur J Pediatr 160:277-82. 2001..Moderate mental retardation might represent a possible manifestation of cerebral dysfunction in patients with profound biotinidase deficiency...
- Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotypeB Plecko
Department of Paediatrics, University Hospital Graz, Graz, Austria
Neuropediatrics 34:127-36. 2003..Neither by MRI nor by MRS were patterns found that would allow differentiation between PMD and PMLD patients...
- Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndromeA L Schulz
Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
Clin Genet 73:62-70. 2008....
- GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like diseaseM Henneke
Department of Pediatrics and Pediatric Neurology, Georg August University, Faculty of Medicine, Robert Koch Strasse 40, 37075 Gottingen, Germany
Neurology 70:748-54. 2008..Few patients with GJA12 mutated PMLD have been reported, and to date, the frequency as well as the genotypic and phenotypic spectrum of GJA12 related PMLD is unclear...