Hypoxanthine Guanine Phosphoribosyltransferase (HPRT) Mutations in the Asian Population
Author:
Publisher
Informa UK Limited
Subject
Genetics,Molecular Medicine,Biochemistry,General Medicine
Link
http://www.tandfonline.com/doi/pdf/10.1080/15257770.2011.603714
Reference17 articles.
1. A familial disorder of uric acid metabolism and central nervous system function
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4. A specific enzyme defect in gout associated with overproduction of uric acid.
5. The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases
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1. Description of the Molecular and Phenotypic Spectrum of Lesch-Nyhan Disease in Eight Chinese Patients;Frontiers in Genetics;2022-04-26
2. Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients;Journal of Inborn Errors of Metabolism and Screening;2021
3. Genetic Background of a Juvenile Onset Gout Patient;Chinese Medical Journal;2018-08-20
4. Surgical Treatment of Knee and Ankle Joint Contractures Resulting From Chronic Tophaceous Gout;JCR: Journal of Clinical Rheumatology;2015-08
5. Hydrophilic-interaction liquid chromatography–tandem mass spectrometric determination of erythrocyte 5-phosphoribosyl 1-pyrophosphate in patients with hypoxanthine–guanine phosphoribosyltransferase deficiency;Journal of Chromatography B;2015-01
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