Untreated PKU patients without intellectual disability: SHANK gene family as a candidate modifier

Phenylketonuria (PKU) is an inborn error of metabolism caused by variants in the phenylalanine hydroxylase (PAH) gene and it is characterized by excessively high levels of phenylalanine in body fluids. PKU is a paradigm for a genetic disease that can be treated and majority of developed countries ha...

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Detalles Bibliográficos
Autores principales: Klaassen, K., Djordjevic, M., Skakic, A., Kecman, B., Drmanac, R., Pavlovic, S., Stojiljkovic, M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8639809/
https://www.ncbi.nlm.nih.gov/pubmed/34900593
http://dx.doi.org/10.1016/j.ymgmr.2021.100822

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8639809/
https://www.ncbi.nlm.nih.gov/pubmed/34900593
http://dx.doi.org/10.1016/j.ymgmr.2021.100822

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