An Updated <i>PAH</i> Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations

An Updated <i>PAH</i> Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations

Establishing the genotypes of patients with hyperphenylalaninemia (HPA)/phenylketonuria (PKU, MIM#261600) has been considered a cornerstone for rational medical management. However, knowledge of the phenylalanine hydroxylase gene (<i>PAH)</i> mutational spectrum in Latin American populat...

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Auteurs principaux: Marcela Vela-Amieva, Miguel Angel Alcántara-Ortigoza, Isabel Ibarra-González, Ariadna González-del Angel, Liliana Fernández-Hernández, Sara Guillén-López, Lizbeth López-Mejía, Rosa Itzel Carrillo-Nieto, Leticia Belmont-Martínez, Cynthia Fernández-Lainez
Format: article
Langue:EN
Publié: MDPI AG 2021
Sujets:
phenylketonuria
rare diseases
tetrahydrobiopterin
phenylalanine
newborn screening
Latin America
Genetics
QH426-470
Accès en ligne:https://doaj.org/article/c2a085580e6e4a1296987761bb22f24c
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https://doaj.org/article/c2a085580e6e4a1296987761bb22f24c

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