Nalaganje...
Tyrosinemia type III in an asymptomatic girl
Tyrosinemia type 3 (HT3) is a rare inborn error of tyrosine metabolism caused by mutations in the HPD gene encoding 4-hydroxyphenyl-pyruvate dioxygenase, which is transmitted in an autosomal recessive trait. The disorder is characterized by tyrosine accumulation in body fluids and massive excretion...
Shranjeno v:
| izdano v: | Mol Genet Metab Rep |
|---|---|
| Main Authors: | , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Elsevier
2015
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5471395/ https://ncbi.nlm.nih.gov/pubmed/28649543 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2015.10.004 |
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