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Article

Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population.

Pediatrics - 1 Apr 1996

Eisensmith R C, Martinez D R, Kuzmin A I, Goltsov A A, Brown A, Singh R, Elsas LJ I I, Woo S L

Abstract excerpt

OBJECTIVE: To determine the molecular basis of phenylketonuria (PKU) and related hyperphenylalaninemia (HPA) and to establish correlations between phenylalanine hydroxylase (PAH) genotypes and biochemical and clinical phenotypes in an ethnically diverse US population, PAH genotypes were determined in 35 patients with PKU or HPA and 1 carrier from the Medical Genetics Clinic of the Emory University School of...

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Identifiers

PMID: 8632937

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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Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population.PMID 8632937Read ↗

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