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Journal of Inherited Metabolic Disease|June 19, 2001
Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapyF M Platt, M Jeyakumar, U Andersson, et al.Journal of Inherited Metabolic Disease|September 14, 2002
Intestinal function in glycogen storage disease type IG Visser, J P Rake, F T M Kokke, et al.Journal of Inherited Metabolic Disease|September 14, 2002
Cardiac involvement in Wilson diseaseZ Hlubocká, Z Marecek, A Linhart, et al.Journal of Inherited Metabolic Disease|September 14, 2002
Very long-chain acyl-CoA dehydrogenase deficiency in an infant presenting with massive hepatomegalyR G BolesJournal of Inherited Metabolic Disease|November 1, 2002
Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiencyZ Rahbeeni, F M Vaz, K Al-Hussein, et al.Journal of Inherited Metabolic Disease|May 10, 2002
Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findingsU Lässker, J Zschocke, N Blau, et al.Journal of Inherited Metabolic Disease|May 10, 2002
Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsionsLitmanovitz, O Reish, T Dolfin, et al.Journal of Inherited Metabolic Disease|January 1, 1992
Tryptophan and serotonin metabolism in familial erythrophagocytic lymphohistiocytosisD W Howells, K Hyland, I Smith, et al.Journal of Inherited Metabolic Disease|July 23, 2003
Evaluation of nutritional status and pathophysiology of growth retardation in patients with phenylketonuriaD Dobbelaere, L Michaud, A Debrabander, et al.Journal of Inherited Metabolic Disease|July 23, 2003
Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrationsO Uyguner, E Goicoechea de Jorge, A Cefle, et al.Pageof 429