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...
- Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the myelin transcription factor 1 gene (MYT1)T Kroepfl
Department of Paediatrics and Adolescence Medicine, Medical University Graz, Graz, Austria
Clin Genet 73:492-5. 2008..Loss of these two genes seems to be responsible for the severe mental retardation and mild facial dysmorphic features in our young patient. It might show the phenotypic picture of this specified deletion...
- 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...
- 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...
- 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...