Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease‐causing variants

BACKGROUND: Hyperphenylalaninemia (HPA) is the most common inborn error of amino acid metabolism worldwide. At least 2% of HPA cases are caused by a deficiency in tetrahydrobiopterin (BH4) metabolism. Genes such as QDPR and PTS are essential in the BH4 metabolism. This study aims to identify disease...

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Detalles Bibliográficos
Autores principales: Sadat Fatemi, Seyedeh Helia, Eshraghi, Peyman, Ghanei, Mahmoud, Hamzehloei, Tayebeh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747554/
https://www.ncbi.nlm.nih.gov/pubmed/36382472
http://dx.doi.org/10.1002/mgg3.2081

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747554/
https://www.ncbi.nlm.nih.gov/pubmed/36382472
http://dx.doi.org/10.1002/mgg3.2081

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