Mutation spectrum of PTS gene in patients with tetrahydrobiopterin deficiency from jiangxi province
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DOI: 10.3389/fgene.2022.1077729
Abstract: Background: Hyperphenylalaninemia (HPA) is the most common inborn error in amino acid metabolism. It can be primarily classified into phenylalanine hydroxylase (PAH) deficiency and tetrahydrobiopterin (BH4) deficiency. BH4 deficiency (BH4D) is caused by genetic defects… read more here.
Keywords: pts gene; jiangxi province; deficiency;
Identification and molecular analysis of 11 cases of the PTS gene variants associated with tetrahydrobiopterin deficiency
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DOI: 10.3389/fgene.2022.919209
Abstract: Background: Tetrahydrobiopterin deficiency (BH4D) is a rare autosomal recessive amino acid metabolic disease that belongs to a kind of hyperphenylalaninemia (HPA), and 6-pyruvyltetrahydrotrexate synthase (PTPS) deficiency is the most common type of BH4D. This study… read more here.
Keywords: gene variants; ptps deficiency; tetrahydrobiopterin deficiency; analysis ... See more keywords