Hereditary Tyrosinemia: Pathogenesis, Screening and Management by
Hereditary Tyrosinemia: Pathogenesis, Screening and Management

Advances in Experimental Medicine and Biology

Hereditary Tyrosinemia: Pathogenesis, Screening and Management

247 pages paperback

2 editions

nonfiction science medium-paced
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Hereditary tyrosinemia type 1 (HT1), the most severe inborn error of the tyrosine degradation pathway, is due to a deficiency in fumarylacetoacetate hydrolase (FAH). The worldwide frequency of HT1 is one per 100,000 births, but some regions have a...

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