X-linked uric aciduria with neurological disease and self-mutilation: Diagnostic test for the enzyme defect
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology and Child Health
Reference6 articles.
1. A familial disorder of uric acid metabolism and central nervous system function;Lesch;Am. J. Med.,1964
2. Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis;Seegmiller;Science,1967
3. A specific enzyme defect in gout associated with overproduction of uric acid;Kelley;Proc. Nat. Acad. Sc.,1967
4. Biochemical bases of accelerated purine biosynthesis de novo in human fibroblasts lacking hypoxanthine-guanine phosphoribosyltransferase;Rosenbloom;J. Biol. Chem.,1968
5. Urine uric acid to creatinine ratio—A screening test for inherited disorders of purine metabolism;Kaufman;J. Pediat.,1968
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1. THE LESCH-NYHAN SYNDROME;Developmental Medicine & Child Neurology;2008-11-12
2. Enzymdefekte des Purinstoffwechsels mit Gicht;Hyperurikämie, Gicht und andere Störungen des Purinhaushalts;1990
3. Simple Screening Methods for Disorders of Purine Metabolism Using Dried Blood and or Urine Spots on Filter Paper;Advances in Experimental Medicine and Biology;1989
4. Simple Screening Methods for Hypoxanthine-Guanine Phosphoribosyltransferase and Adenine Phosphoribosyltransferase Deficiencies Using Dried Blood Spots on Filter Paper;Annals of Clinical Biochemistry: International Journal of Laboratory Medicine;1986-09
5. GENETIC DEFECTS IN HUMAN PURINE AND PYRIMIDINE METABOLISM;Annual Review of Genetics;1982-12
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