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Article

Inter-individual variation in brain phenylalanine concentration in patients with PKU is not caused by genetic variation in the 4F2hc/LAT1 complex.

Molecular genetics and metabolism - 1 Dec 2005

Møller Lisbeth Birk, Paulsen Marianne, Koch Richard, Moats Rex, Guldberg Per, Güttler Flemming

Abstract excerpt

It remains a question why some patients with phenylketonuria (PKU) have high IQ and low brain phenylalanine (Phe) concentrations in spite of high blood Phe levels. One possible explanation for the low brain Phe concentrations in these patients would be a reduced transport of Phe across the blood-brain barrier. The 4F2hc/LAT1 complex has been suggested to be the most important molecular component responsible for...

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Identifiers

PMID: 16176881
DOI: 10.1016/j.ymgme.2005.07.031

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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