In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening

• Автори: Marcela Vela-Amieva (Автор), Miguel Angel Alcántara-Ortigoza (Автор), Ariadna González-del Angel (Автор), Isabel Ibarra-González (Автор), Liliana Fernández-Hernández (Автор), Sara Guillén-López (Автор), Lizbeth López-Mejía (Автор), Cynthia Fernández-Lainez (Автор)
• Формат: Книга
• Опубліковано: MDPI AG, 2023-11-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: Connect to this object online.

Hyperphenylalaninemia (HPA), which includes phenylketonuria (PKU), is a genetic autosomal recessive disorder arising from a deficiency in the enzyme named phenylalanine hydroxylase (PAH). Affected patients can experience severe and irreversible neurological impairments when phenylalanine (Phe) blood...