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

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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Bibliographic Details
Main Authors: K. Klaassen, M. Djordjevic, A. Skakic, B. Kecman, R. Drmanac, S. Pavlovic, M. Stojiljkovic
Format: Article
Language:English
Published: Elsevier 2021-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Phenylketonuria
Late-diagnosed
Untreated
Intellectual disability
Modifier gene
SHANK
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426921001178

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http://www.sciencedirect.com/science/article/pii/S2214426921001178

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