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Article

Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.

International journal of audiology - 1 Jan 2013

Liu Xue Zhong, Xie Dinghua, Yuan Hui Jun, de Brouwer Arjan P M, Christodoulou John, Yan Denise

Abstract excerpt

OBJECTIVE: The purpose of this review was to evaluate the current literature on phosphoribosylpyrophosphate synthetase 1 (PRPS1)-related diseases and their consequences on hearing function. DESIGN: A literature search of peer-reviewed, published journal articles was conducted in online bibliographic databases. STUDY SAMPLE: Three databases for medical research were included in this review. RESULTS: Mutations in...

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Source

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Identifiers

PMID: 23190330
DOI: 10.3109/14992027.2012.736032
PMCID: PMC4511087

Genes

PRPS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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