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Article

[Clinical, biomedical , neurological and molecular study of 11 patients with new mutations in PAH gene].

Revista de neurologia - 1 Jan 2000

Mallolas J, Vilaseca M A, Campistol J, Lambruschini N, Cambra F J, Fusté M E, Milà M

Abstract excerpt

INTRODUCTION: PKU is an autosomal recessive disorder. There is a broad spectrum phenotype which depends mainly on residual enzymatic activity and also on other factors such as modifying genes and non-genetic factors. This fact makes us consider that a multidisciplinary study of these patients is necessary to improve knowledge of the condition. OBJECTIVE: To establish phenotype-genotype correlation and classify...

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Source

Identifiers

PMID: 11244681

Genes

PAH

Provenance

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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