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Article

Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Turkey.

Journal of pediatric endocrinology & metabolism : JPEM - 25 May 2022

Çınar Müge, Kılıç Yıldırım Gonca, Kocagil Sinem, Çilingir Oğuz

Abstract excerpt

OBJECTIVES: The aim of our study was to define the genotype-phenotype correlations of mutations in the PAH gene among the Turkey's Central Anatolian region. METHODS: Demographic characteristics of 108 patients with hyperphenylalaninemia (HPA) and 94 patients whose diagnosis was confirmed by PAH gene analysis (Sanger DNA Sequence Analysis and Next-Generation Sequencing) were determined retrospectively. Blood...

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Identifiers

PMID: 35355500
DOI: 10.1515/jpem-2022-0047

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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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