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Article

Undiagnosed phenylketonuria in parents of phenylketonuric patients, is it worthwhile to be checked?

Molecular genetics and metabolism - 1 Jan 2013

Wiedemann A, Leheup B, Battaglia-Hsu S-F, Jonveaux P, Jeannesson E, Feillet F

Abstract excerpt

In our phenylketonuria (PKU) cohort of 120 patients, we uncovered a couple of cases of undiagnosed mild phenylketonuria (mPKU)/hyperphenylalaninemia (mHPA) in maternal parents of the PKU cohort. This finding prompted us to evaluate the risk of either mild phenylketonuria or mild hyperphenylalaninemia in the parent population whose children were diagnosed with hyperphenylalaninemia (HPA). Taking into account the...

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PMID: 24051226
DOI: 10.1016/j.ymgme.2013.08.014

Genes

PAH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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