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Succinylacetone as Primary Marker to Detect Tyrosinemia Type I in Newborns and its Measurement by Newborn Screening Programs

Tyrosinemia type I (TYR I) is caused by autosomal recessive fumarylacetoacetate hydrolase deficiency and is characterized by development of severe liver disease in infancy and neurologic crises. If left untreated, most patients die of liver failure in the first years of life. Intervention with medic...

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Bibliografiske detaljer
Udgivet i:Mol Genet Metab
Main Authors: De Jesús, Víctor R., Adam, Barbara W., Mandel, Daniel, Cuthbert, Carla D., Matern, Dietrich
Format: Artigo
Sprog:Inglês
Udgivet: 2014
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4533100/
https://ncbi.nlm.nih.gov/pubmed/25066104
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2014.07.010
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