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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| Auteurs principaux: | , , , , , , |
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| Format: | article |
| Langue: | EN |
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Elsevier
2021
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| Accès en ligne: | https://doaj.org/article/d9f96c90fcf040fb8bfc5b302d89122c |
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