Determination of phosphoribosylpyrophosphate synthetase activity in human cells by a non-isotopic, one step method
Author:
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference10 articles.
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2. Inherited superactivity of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorineural deafness;Becker;Am J Med,1988
3. Identification of distincts PRS1 mutations in two patients with X-linked phopshoribosylpyrophosphate synthetase superactivity;Roessler;Adv Exp Med Biol,1991
4. Diagnostic evaluation of phosphoribosylpyrophosphate synthetase activities in hemolysates;Losman;J Lab Clin Med,1984
5. Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions;Becker;J Clin Invest,1980
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1. Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review;Molecular Genetics and Metabolism Reports;2023-09
2. Loss-of-Function Mutations in the PRPS1 Gene Cause a Type of Nonsyndromic X-linked Sensorineural Deafness, DFN2;The American Journal of Human Genetics;2010-01
3. The Phosphatidylinositol 3-Kinase/Akt Cassette Regulates Purine Nucleotide Synthesis;Journal of Biological Chemistry;2009-02
4. 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);The American Journal of Human Genetics;2007-09
5. Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1;The American Journal of Human Genetics;2007-09
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