HPRT Deficiency in Spain: What Have We Learned in the Past 30 Years (1984–2013)?
Author:
Publisher
Informa UK Limited
Subject
Genetics,Molecular Medicine,Biochemistry,General Medicine
Link
http://www.tandfonline.com/doi/pdf/10.1080/15257770.2013.853784
Reference27 articles.
1. A familial disorder of uric acid metabolism and central nervous system function
2. Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis
3. The Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase (HPRT) Deficiency
4. Delineation of the motor disorder of Lesch–Nyhan disease
5. Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome
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1. 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
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3. Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency;Molecular Genetics and Metabolism;2019-06
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5. GLUT9 influences uric acid concentration in patients with Lesch-Nyhan disease;International Journal of Rheumatic Diseases;2018-06
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