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Article

The relationship of genotype to phenotype in phenylalanine hydroxylase deficiency.

Biochemical and molecular medicine - 1 Apr 1997

Koch R, Fishler K, Azen C, Guldberg P, Güttler F

Abstract excerpt

Seventy-two adults with phenylketonuria were evaluated to investigate the genotypic relationship to phenotype. Patient data were collected by chart review and medical follow-up as well as current psychological evaluation. Nineteen diagnosed neonatally had remained on a phenylalanine-restricted diet all their lives, whereas 34 who were also diagnosed on newborn screening had discontinued dietary restriction during...

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Identifiers

PMID: 9169088
DOI: 10.1006/bmme.1997.2577

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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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