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Article

[Phenotypic and molecular characterization of a Colombian family with phenylketonuria].

Biomedica : revista del Instituto Nacional de Salud - 1 Sept 2016

Gélvez Nancy, Acosta Johana, López Greizy, Castro Derly, Prieto Juan Carlos, Bermúdez Martha, Tamayo Marta L

Abstract excerpt

INTRODUCTION: Phenylketonuria is a metabolic disorder characterized by severe neurological involvement and behavioral disorder, whose early diagnosis enables an effective treatment to avoid disease sequelae, thus changing the prognosis. Objective: To characterize a family with phenylketonuria in Colombia at clinical, biochemical and molecular levels. Materials and methods: The population consisted of seven...

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PMID: 27869385
DOI: 10.7705/biomedica.v36i3.2639

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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