Update on the Phenotypic Spectrum of Lesch-Nyhan Disease and its Attenuated Variants-Reference-Cited by-同舟云学术

Update on the Phenotypic Spectrum of Lesch-Nyhan Disease and its Attenuated Variants

Published:2011-12-24 Issue:2 Volume:14 Page:189-194
ISSN:1523-3774
Container-title:Current Rheumatology Reports
language:en
Short-container-title:Curr Rheumatol Rep

Author:

Torres Rosa J.,Puig Juan G.,Jinnah H. A.

Publisher

Springer Science and Business Media LLC

Subject

Rheumatology

Link

http://link.springer.com/content/pdf/10.1007/s11926-011-0231-5.pdf

Reference40 articles.

1. Torres RJ, Puig JG. Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. Orphanet J Rare Dis. 2007;2:48.

2. Jinnah HA, Friedmann T. Lesch-Nyhan disease and its variants. In: Scriver CR et al., editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001. p. 2537–70.

3. Lesch M, Nyhan WL. A familial disorder of uric acid metabolism and central nervous system function. Am J Med. 1964;36:561–70.

4. Visser JE, Baer PR, Jinnah HA. Lesch-Nyhan syndrome and the basal ganglia. Brain Res Rev. 2000;32:449–75.

5. Jinnah HA, et al. Delineation of the motor disorder of Lesch-Nyhan disease. Brain. 2006;129:1201–17.

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