Hereditary Tyrosinemia Pathogenesis, Screening and Management /
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 significantly higher incidence (1:1,800). The FAH de...
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| Format: | Electronic eBook |
| Language: | English |
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Cham :
Springer International Publishing : Imprint: Springer,
2017.
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| Series: | Advances in Experimental Medicine and Biology,
959 |
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| Online Access: | Full Text via HEAL-Link |
