Tyrosinemia type I: an unusual case presentation
Background: Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive inherited metabolic disorder caused by the fumerylacetoacetate hydrolase enzyme deficiency. It is characterized by liver dysfunction and/ or failure, renal tubular dysfunction. If left untreated it may lead to Fanconi syndrome...
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| Hlavní autoři: | , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
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Discover STM Publishing Ltd
2022-06-01
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| Edice: | Journal of Biochemical and Clinical Genetics |
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| On-line přístup: | http://www.ejmanager.com/fulltextpdf.php?mno=91001 |
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