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Journal of Inherited Metabolic Disease|August 1, 1997
Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiencyE Naito, M Ito, I Yokota, et al.Journal of Inherited Metabolic Disease|November 5, 1997
A new peroxisomal beta-oxidation disorder in twin neonates: defective oxidation of both cerotic and pristanic acidsE Christensen, S A Pedersen, H Leth, et al.Journal of Inherited Metabolic Disease|January 14, 1998
Expression of human phenylalanine hydroxylase activity in T lymphocytes of classical phenylketonuria children by retroviral-mediated gene transferC M Lin, Y Tan, Y M Lee, et al.Journal of Inherited Metabolic Disease|January 14, 1998
Neurological dysfunction in methylmalonic acidaemia is probably related to the inhibitory effect of methylmalonate on brain energy productionM Wajner, J C CoelhoJournal of Inherited Metabolic Disease|January 14, 1998
Essential fatty acids in clinically stable children with propionic acidaemiaT Decsi, W Sperl, B KoletzkoJournal of Inherited Metabolic Disease|January 14, 1998
Inborn errors of metabolism with a protein-restricted diet: effect on polyunsaturated fatty acidsP Sanjurjo, J I Ruiz, M MontejoJournal of Inherited Metabolic Disease|January 14, 1998
Mutations among Italian mucopolysaccharidosis type I patientsR Gatti, P DiNatale, G R Villani, et al.Journal of Inherited Metabolic Disease|January 14, 1998
A male child with the rumpshaker mutation, X-linked spastic paraplegia/Pelizaeus-Merzbacher disease and lysinuriaS Naidu, S R Dlouhy, M T Geraghty, et al.Journal of Inherited Metabolic Disease|March 21, 1998
The association of protein-losing enteropathy with cobalamin C defectC Ellaway, J Christodoulou, R Kamath, et al.Journal of Inherited Metabolic Disease|November 8, 2003
The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statementT M Cox, J M F G Aerts, G Andria, et al.Pageof 429