Associated Papers
Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review.
Štajer K et al.
Molecular Genetics and Metabolism Reports, 2023
A Novel PRPS1 Mutation in a Japanese Patient with CMTX5.
Shirakawa S et al.
Internal Medicine (tokyo, Japan), 2022
A novel mutation in gene of PRPS1 in a young Chinese woman with X-linked gout: a case report and review of the literature.
Yang BY et al.
Clinical Rheumatology, 2020
A novel mutation in PRPS1 causes X-linked Charcot-Marie-Tooth disease-5.
Meng L et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2019
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.
Lerat J et al.
Molecular Genetics & Genomic Medicine, 2019
A profound computational study to prioritize the disease-causing mutations in PRPS1 gene.
Agrahari AK et al.
Metabolic Brain Disease, 2018
Arts syndrome with a novel missense mutation in the PRPS1 gene: A case report.
Maruyama K et al.
Brain & Development, 2016
Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.
Gandía M et al.
Pediatric Research, 2015
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.
Robusto M et al.
European Journal of Human Genetics : Ejhg, 2015
Association of PRPS1 Mutations with Disease Phenotypes.
Mittal R et al.
Disease Markers, 2015
X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.
Synofzik M et al.
Orphanet Journal of Rare Diseases, 2014
Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.
Park J et al.
Journal of Clinical Neurology (seoul, Korea), 2013
Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.
Liu XZ et al.
International Journal of Audiology, 2013
Pediatric neurological syndromes and inborn errors of purine metabolism.
Camici M et al.
Neurochemistry International, 2010
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.
Liu X et al.
American Journal of Human Genetics, 2010
Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).
Kim HJ et al.
American Journal of Human Genetics, 2007