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Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.

Liu X, Han D, Li J, Han B, Ouyang X, Cheng J, Li X, Jin Z, Wang Y, Bitner-Glindzicz M, Kong X, Xu H, Kantardzhieva A, Eavey RD, Seidman CE, Seidman JG, Du LL, Chen ZY, Dai P, Teng M, Yan D, Yuan H.

Am J Hum Genet. 2010 Jan;86(1):65-71. doi: 10.1016/j.ajhg.2009.11.015.


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, Sohn KM, Shy ME, Krajewski KM, Hwang M, Park JH, Jang SY, Won HH, Choi BO, Hong SH, Kim BJ, Suh YL, Ki CS, Lee SY, Kim SH, Kim JW.

Am J Hum Genet. 2007 Sep;81(3):552-8. Epub 2007 Jun 29.


Arts syndrome is caused by loss-of-function mutations in PRPS1.

de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J, van Bokhoven H.

Am J Hum Genet. 2007 Sep;81(3):507-18. Epub 2007 Aug 3.


Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman.

García-Pavía P, Torres RJ, Rivero M, Ahmed M, García-Puig J, Becker MA.

Arthritis Rheum. 2003 Jul;48(7):2036-41.


Determination of phosphoribosylpyrophosphate synthetase activity in human cells by a non-isotopic, one step method.

Torres RJ, Mateos FA, Puig JG, Becker MA.

Clin Chim Acta. 1996 Feb 9;245(1):105-12. No abstract available.


Familial opticoacoustic nerve degeneration and polyneuropathy.

Rosenberg RN, Chutorian A.

Neurology. 1967 Sep;17(9):827-32. No abstract available.

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