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Journal of Inherited Metabolic Disease|April 5, 2001
Carnitine palmitoyltransferase I deficiency in neonate identified by dried blood spot free carnitine and acylcarnitine profileK G Sim, V Wiley, K Carpenter, et al.Journal of Inherited Metabolic Disease|April 5, 2001
Congenital porto-left renal venous shunt as a cause of galactosaemiaN Mizoguchi, N Sakura, H Ono, et al.Journal of Inherited Metabolic Disease|July 26, 2002
Oxidative stress in inborn errors of metabolism: lessons from glutathione deficiencyE Ristoff, A LarssonJournal of Inherited Metabolic Disease|July 26, 2002
Tyrosinaemia type I and apoptosis of hepatocytes and renal tubular cellsF Endo, M S SunJournal of Inherited Metabolic Disease|October 13, 2001
Partial effect of bromocriptine on lactose and galactose synthesis in a pregnant woman heterozygous for galactosaemiaM Odièvre, M Brivet, M F Rivière, et al.Journal of Inherited Metabolic Disease|January 1, 1978
Diagnosis of Gaucher's disease in cultured skin fibroblasts and leucocytesJ Butterworth, D M BroadheadJournal of Inherited Metabolic Disease|January 1, 1978
The use of natural and artifical substrates in the prenatal diagnosis of Krabbe's diseaseG T BesleyJournal of Inherited Metabolic Disease|January 5, 2002
The clinically variable R40H mutant ornithine carbamoyltransferase shows cytosolic degradation of the precursor protein in CHO cellsM Mavinakere, H Morizono, D Shi, et al.Journal of Inherited Metabolic Disease|January 5, 2002
Acceptability of a new modular protein substitute for the dietary treatment of phenylketonuriaF J Rohr, A W Munier, H L LevyJournal of Inherited Metabolic Disease|January 5, 2002
Effect of ramipril in a patient with glycogen storage disease type I and nephrotic-range proteinuriaI Pela, M A Donati, E ZammarchiPageof 429