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Pediatrics|January 1, 1981
Metabolic abnormalities in the idiopathic Fanconi syndrome: studies of carbohydrate metabolism in two patientsR W Chesney, B S Kaplan, D Teitel, et al.Human Mutation|January 1, 1992
Novel Tay-Sachs disease mutations from ChinaN Akalin, H P Shi, G Vavougios, et al.Proceedings of the National Academy of Sciences of the United States of America|March 3, 1999
A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyaseC N Sarkissian, Z Shao, F Blain, et al.The Journal of Pediatrics|September 1, 1996
Glutathione deficiency as a complication of methylmalonic acidemia: response to high doses of ascorbateE Treacy, L Arbour, P Chessex, et al.Pediatric Research|March 1, 1980
Abnormalities of carbohydrate metabolism in idiopathic Fanconi syndromeR W Chesney, B S Kaplan, E Colle, et al.Annals of Human Genetics|January 11, 2008
The birth prevalence of PKU in populations of European, South Asian and sub-Saharan African ancestry living in South East EnglandP Hardelid, M Cortina-Borja, A Munro, et al.Human Mutation|December 29, 1999
PAHdb: a locus-specific knowledgebaseC R Scriver, P J Waters, C Sarkissian, et al.European Journal of Human Genetics : EJHG|October 22, 1998
Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experienceK C Carter, S Byck, P J Waters, et al.Pediatric Neurology|October 1, 1994
Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiencyM I Shevell, P M Matthews, C R Scriver, et al.Journal of Inherited Metabolic Disease|January 1, 1992
3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4')D Chitayat, J Chemke, K M Gibson, et al.Pageof 18