Identification and molecular analysis of 11 cases of the PTS gene variants associated with tetrahydrobiopterin deficiency

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 investigates the clinical and gene...

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Detalles Bibliográficos
Autores principales: Li, Lulu, Yang, Haihe, Zhao, Jinqi, Yang, Nan, Gong, Lifei, Tang, Yue, Kong, Yuanyuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9536429/
https://www.ncbi.nlm.nih.gov/pubmed/36212127
http://dx.doi.org/10.3389/fgene.2022.919209

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9536429/
https://www.ncbi.nlm.nih.gov/pubmed/36212127
http://dx.doi.org/10.3389/fgene.2022.919209

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