Format
Sort by
Items per page

Send to

Choose Destination

Links from Books

Items: 8

1.

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.

2.

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.

3.

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.

4.

Dramatic reduction in self-injury in Lesch-Nyhan disease following S-adenosylmethionine administration.

Glick N.

J Inherit Metab Dis. 2006 Oct;29(5):687. Epub 2006 Aug 12.

PMID:
16906475
5.

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.

6.

X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course.

Arts WF, Loonen MC, Sengers RC, Slooff JL.

Ann Neurol. 1993 May;33(5):535-9.

PMID:
8498830
7.

Familial opticoacoustic nerve degeneration and polyneuropathy.

Rosenberg RN, Chutorian A.

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

PMID:
6069085
8.

Infantile X-linked ataxia and deafness: a new clinicopathologic entity?

Schmidley JW, Levinsohn MW, Manetto V.

Neurology. 1987 Aug;37(8):1344-9.

PMID:
3614654

Supplemental Content

Support Center