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Neurology|June 2, 2010
Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher diseaseM Henneke, S Gegner, A Hahn, et al.Neuropediatrics|March 19, 2009
Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindnessG Kluger, R Blank, K Paul, et al.Journal of Inherited Metabolic Disease|September 10, 2005
Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient ratsB Plecko, H Hoeger, C Jakobs, et al.Clinical Pediatrics|November 7, 2003
The clinical spectrum of mitochondrial disease in 75 pediatric patientsD Skladal, C Sudmeier, V Konstantopoulou, et al.Biochemical and Biophysical Research Communications|December 19, 2000
Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndromeP Vreken, F Valianpour, L G Nijtmans, et al.Clinical Genetics|February 24, 2010
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutationsD Hofer, K Paul, K Fantur, et al.Neuropediatrics|December 19, 2009
Epilepsy in patients with propionic acidemiaE Haberlandt, C Canestrini, M Brunner-Krainz, et al.Neuropediatrics|June 10, 2005
Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsyB Plecko, C Hikel, G-C Korenke, et al.European Journal of Pediatrics|June 5, 2001
Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in AustriaD Möslinger, S Stöckler-Ipsiroglu, S Scheibenreiter, et al.Neuropediatrics|August 12, 2003
Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotypeB Plecko, S Stöckler-Ipsiroglu, S Gruber, et al.Pageof 4