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Article

Genetic variants of the phenylalanine hydroxylase gene in patients with phenylketonuria in the northeast of Iran.

Journal of pediatric endocrinology & metabolism : JPEM - 26 Mar 2020

Jafarzadeh-Esfehani Reza, Vojdani Samaneh, Hashemian Somayyeh, Mirinezhad Mohammadreza, Pourafshar Mohammad, Forouzanfar Narjes, Zargari Selma, Jaripour Mohammad Ehsan, Sadr-Nabavi Ariane

Abstract excerpt

Background Phenylketonuria (PKU) is a common metabolic disorder with great burden if left untreated or undiagnosed. Genetic variations in the phenylalanine hydroxylase (PAH) gene may be widely varied across different regions of a country. By knowing the most common mutations, diagnostic work-ups will be offered sooner and with lower costs for patients. The present study defines the most common genetic variations...

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Identifiers

PMID: 32069237
DOI: 10.1515/jpem-2019-0351

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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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