Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman
about
Arts syndrome is caused by loss-of-function mutations in PRPS1A small disturbance, but a serious disease: the possible mechanism of D52H-mutant of human PRS1 that causes goutAssociation of PRPS1 Mutations with Disease PhenotypesPhosphoribosyl Diphosphate (PRPP): Biosynthesis, Enzymology, Utilization, and Metabolic Significance.PRPS1 mutations: four distinct syndromes and potential treatment.Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.
P2860
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P2860
Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman
description
2003 nî lūn-bûn
@nan
2003 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Phosphoribosylpyrophosphate sy ...... verproduction in a young woman
@ast
Phosphoribosylpyrophosphate sy ...... verproduction in a young woman
@en
Phosphoribosylpyrophosphate sy ...... verproduction in a young woman
@en-gb
Phosphoribosylpyrophosphate sy ...... verproduction in a young woman
@nl
type
label
Phosphoribosylpyrophosphate sy ...... verproduction in a young woman
@ast
Phosphoribosylpyrophosphate sy ...... verproduction in a young woman
@en
Phosphoribosylpyrophosphate sy ...... verproduction in a young woman
@en-gb
Phosphoribosylpyrophosphate sy ...... verproduction in a young woman
@nl
prefLabel
Phosphoribosylpyrophosphate sy ...... verproduction in a young woman
@ast
Phosphoribosylpyrophosphate sy ...... verproduction in a young woman
@en
Phosphoribosylpyrophosphate sy ...... verproduction in a young woman
@en-gb
Phosphoribosylpyrophosphate sy ...... verproduction in a young woman
@nl
P2093
P2860
P356
P1476
Phosphoribosylpyrophosphate sy ...... verproduction in a young woman
@en
P2093
Juan García-Puig
Manuel Rivero
Maqbool Ahmed
Michael A Becker
Pablo García-Pavía
Rosa J Torres
P2860
P304
P356
10.1002/ART.11058
P407
P577
2003-07-01T00:00:00Z