Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles

BACKGROUND: A high level of succinylacetone (SA) in blood is a sensitive, specific marker for the screening and diagnosis of hepatorenal tyrosinemia (HT1, MIM 276700). HT1 is caused by mutations in the FAH gene, resulting in deficiency of fumarylacetoacetate hydrolase. HT1 newborns are usually clini...

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Detalles Bibliográficos
Autores principales: Yang, Hao, Rossignol, Francis, Cyr, Denis, Laframboise, Rachel, Wang, Shu Pei, Soucy, Jean-François, Berthier, Marie-Thérèse, Giguère, Yves, Waters, Paula J., Mitchell, Grant A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5758842/
https://www.ncbi.nlm.nih.gov/pubmed/29326876
http://dx.doi.org/10.1016/j.ymgmr.2017.12.002

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