Identification and molecular analysis of 11 cases of the PTS gene variants associated with tetrahydrobiopterin deficiency
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
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