Clinical severity in Lesch–Nyhan disease: The role of residual enzyme and compensatory pathways-Reference-Cited by-同舟云学术

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Clinical severity in Lesch–Nyhan disease: The role of residual enzyme and compensatory pathways

Published:2015-01 Issue:1 Volume:114 Page:55-61
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Fu Rong,Sutcliffe Diane,Zhao Hong,Huang Xinyi,Schretlen David J.,Benkovic Steve,Jinnah H.A.

Funder

Lesch–Nyhan Syndrome Children's Research Foundation

National Institutes of Health

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference27 articles.

1. The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases;Jinnah;Mutat. Res.,2000

2. Genotypic and phenotypic spectrum in attenuated variants of Lesch–Nyhan disease;Fu;Mol. Genet. Metab.,2014

3. Update on the phenotypic spectrum of Lesch–Nyhan disease and its attenuated variants;Torres;Curr. Rheumatol. Rep.,2011

4. Attenuated variants of Lesch–Nyhan disease;Jinnah;Brain,2010

5. Neurocognitive functioning in Lesch–Nyhan disease and partial hypoxanthine–guanine phosphoribosyltransferase deficiency;Schretlen;J. Int. Neuropsychol. Soc.,2001

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