Unapparent hypoxanthine-guanine phosphoribosyltransferase deficiency-Reference-Cited by-同舟云学术

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Unapparent hypoxanthine-guanine phosphoribosyltransferase deficiency

Published:2017-09 Issue: Volume:472 Page:136-138
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Torres R.J.,Puente S.,Menendez A.,Fernandez-Garcia N.

Funder

ERDF

Fondo de Investigación Sanitaria del Instituto de Salud Carlos III

Mutua Madrileña Fundation

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference19 articles.

1. A familial disorder of uric acid metabolism and central nervous system function;Lesch;Am. J. Med.,1964

2. Delineation of the motor disorder of Lesch-Nyhan disease;Jinnah;Brain,2006

3. Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis;Seegmiller;Science,1967

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

5. The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families;Puig;Medicine (Baltimore),2001

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3. A natural complex product Yaocha reduces uric acid level in a live zebrafish model;Journal of Pharmacological and Toxicological Methods;2020-03

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