Title : Urinary excretion of deuterated metabolites in patients with tyrosinemia type I after oral loading with deuterated L-tyrosine.

Pub. Date : 1983 May 30

PMID : 6872257






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1 The metabolic fate of orally given deuterated L-tyrosine, 50 mg/kg body weight, was investigated in seven patients with tyrosinemia type I in order to obtain evidence that the primary defect is at the level of fumarylacetoacetase. Tyrosine fumarylacetoacetate hydrolase Homo sapiens