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Article

Genotype and intellectual phenotype in untreated phenylketonuria patients.

Pediatric research - 1 Apr 1999

Ramus S J, Forrest S M, Pitt D D, Cotton R G

Abstract excerpt

Previous studies have shown that genotype correlates with biochemical phenotype in treated phenylketonuria. If there is a strong correlation between genotype and intellectual phenotype of untreated patients, it would be possible to determine which individuals would have normal intelligence without treatment. In this study, 42 families with untreated phenylketonuria were analyzed to examine whether there was an...

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Identifiers

PMID: 10203137
DOI: 10.1203/00006450-199904010-00004

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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