Associated Papers
Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.
Feng H et al.
Orphanet Journal of Rare Diseases, 2024
[Genetic and biochemical features of the monogenic hereditary urolithiasis].
Mikhaylenko DS et al.
Biomeditsinskaia Khimiia, 2018
Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females.
Zikánová M et al.
Rheumatology (oxford, England), 2018
A profound computational study to prioritize the disease-causing mutations in PRPS1 gene.
Agrahari AK et al.
Metabolic Brain Disease, 2018
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
Fiorentino A et al.
Human Mutation, 2018
Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.
Porrmann J et al.
American Journal of Medical Genetics. Part A, 2017
Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.
Gandía M et al.
Pediatric Research, 2015
Crystal and EM structures of human phosphoribosyl pyrophosphate synthase I (PRS1) provide novel insights into the disease-associated mutations.
Chen P et al.
Plos One, 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
Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.
Liu XZ et al.
International Journal of Audiology, 2013
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