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...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής

Κύριοι συγγραφείς:	Hao Yang, Francis Rossignol, Denis Cyr, Rachel Laframboise, Shu Pei Wang, Jean-François Soucy, Marie-Thérèse Berthier, Yves Giguère, Paula J. Waters, Grant A. Mitchell
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Elsevier 2018-03-01
Σειρά:	Molecular Genetics and Metabolism Reports
Θέματα:	Tyrosinemia Hypersuccinylacetonemia Fah Fumarylacetoacetate hydrolase Nitisinone Pseudodeficiency
Διαθέσιμο Online:	http://www.sciencedirect.com/science/article/pii/S2214426917301635
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