Inherited superactivity of phosphoribosylpyrophosphate synthetase: Association of uric acid overproduction and sensorineural deafness

Author:

Becker Michael A.,Puig Juan G.,Mateos Felicitas A.,Jimenez Manuel L.,Kim Mitchel,Simmonds H.Anne

Publisher

Elsevier BV

Subject

General Medicine

Reference45 articles.

1. Enzymatic synthesis and properties of 5-phosphoribosylpyrophosphate;Kornberg;J Biol Chem,1955

2. Human phosphoribosylpyrophosphate amidotransferase: two molecular forms interconvertible by purine ribonucleotides and phosphoribosylpyrophosphate;Holmes;J Biol Chem,1973

3. Mechanisms of accelerated purine nucleotide synthesis in human fibroblasts with superactive phosphoribosylpyrophosphate synthetases;Becker;J Biol Chem,1987

4. Metabolic cooperation between human fibroblasts with normal and with mutant superactive phosphoribosylpyrophosphate synthetase;Zoref;Nature,1976

5. Evidence for X-linkage of human phosphoribosylpyrophosphate synthetase;Yen,1978

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