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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...

Whakaahuatanga katoa

I tiakina i:
Ngā kaituhi matua: 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
Hōputu: Artigo
Reo:Inglês
I whakaputaina: Elsevier 2018-03-01
Rangatū:Molecular Genetics and Metabolism Reports
Ngā marau:
Tyrosinemia
Hypersuccinylacetonemia
Fah
Fumarylacetoacetate hydrolase
Nitisinone
Pseudodeficiency
Urunga tuihono:http://www.sciencedirect.com/science/article/pii/S2214426917301635
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