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Journal of Inherited Metabolic Disease|May 15, 2007
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS)D Haas, S F Garbade, C Vohwinkel, et al.Neuropediatrics|April 4, 2002
Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathyV Peters, J M Penzien, G Reiter, et al.Schweizerische Rundschau Fur Medizin Praxis = Revue Suisse De Medecine Praxis|September 3, 1991
[Variability of epileptic seizure phenomenology in infants and children]F Vassella, F Donati, J M PenzienEuropean Journal of Pediatrics|January 1, 1994
Selective screening for inborn errors of metabolism--past, present and futureG F HoffmannAmerican Journal of Human Genetics|July 10, 2001
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemiaL Bonafé, B Thöny, J M Penzien, et al.Developmental Medicine and Child Neurology|November 1, 1990
Does migraine-related stroke occur in childhood?L N Rossi, J M Penzien, T Deonna, et al.Klinische Padiatrie|April 2, 1998
[Value of the new anticonvulsants in pediatrics]M Köhler, G F HoffmannBiomedical & Environmental Mass Spectrometry|August 1, 1990
An improved chemical ionization assay for mevalonic acidG F Hoffmann, L SweetmanJournal of Inherited Metabolic Disease|July 17, 1999
Glutaric aciduria type I: from clinical, biochemical and molecular diversity to successful therapyG F Hoffmann, J ZschockePageof 18