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Treatment adherence during childhood in individuals with phenylketonuria: Early signs of treatment discontinuation

INTRODUCTION: Phenylketonuria (PKU) is an autosomal recessive disorder characterized by a deficiency in phenylalanine (Phe) hydroxylase activity. Early diagnosis and continuous treatment with a low Phe diet prevents severe neurological and cognitive impairment. AIMS: 1. Analyze how treatment adheren...

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Bibliografische gegevens
Gepubliceerd in:Mol Genet Metab Rep
Hoofdauteurs: García, María Ignacia, Araya, Gabriela, Coo, Soledad, Waisbren, Susan E., de la Parra, Alicia
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2017
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5412103/
https://ncbi.nlm.nih.gov/pubmed/28491816
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2017.04.006
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