Lesch-Nyhan disease

Nucleosides, Nucleotides and Nucleic Acids

Volumn 27, Issue 6-7, 2008, Pages 559-563

  Nyhan, W L ^a  

^a UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

Author keywords

HPRT; Hyperuricemia; Lesch Nyhan disease; Mutation; Self injurious behavior

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE;

CLINICAL ARTICLE; CLINICAL FEATURE; CONFERENCE PAPER; CONTROLLED STUDY; ENZYME ACTIVITY; FIBROBLAST; GENE MUTATION; GENETIC VARIABILITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; HYPERURICEMIA; LESCH NYHAN SYNDROME; PHENOTYPE;

ADENINE PHOSPHORIBOSYLTRANSFERASE; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LESCH-NYHAN SYNDROME; MUTATION; PHENOTYPE;

EID: 46749123857     PISSN: 15257770     EISSN: 15322335     Source Type: Journal    
DOI: 10.1080/15257770802135745     Document Type: Conference Paper

References (12)

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2. Nyhan, W.L.; Barshop, B.A.; Ozard, P. Atlas of Metabolic Diseases. A. Hodder Arnold, London, 2nd ed., 2005.
3. Seegmiller, J.E.; Rosenbloom, F.M.; Kelley, W.N. Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science 1967, 155, 1682-1684.
4. Page, T.; Nyhan, W.L.; Morena de Vega, V. Syndrome of mild mental retardation, spastic gait, and skeletal malformations in a family with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. Pediatrics 1987, 79, 713-717.
5. Sweetman, L.; Nyhan, W.L. Further studies of the enzyme composition of mutant cells in X-linked uric aciduria. Arch. Intern. Med. 1972, 130, 214-220.
6. Bakay, B.; Telfer, M.A.; Nyhan, W.L. Assay of hypoxanthine-guanine and adenine phosphoribosyl transferases. A simple screening test for the Lesch-Nyhan syndrome and related disorders of purine metabolism. Biochem. Med. 1969, 3, 230-243.
7. Page, T.; Bakay, B.; Nyhan, W.L. An improved procedure for the detection of hypoxanthine-guanine phosphoribosyl transferase heterozygotes. Clin. Chem. 1982, 28, 1181-1184.
8. Page, T.; Bakay, B.; Nissinen, E.; Nyhan, W.L. Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity. J. Inherit. Metab. Dis. 1981, 4, 203-206.
9. De Gregorio, L.; Nyhan, W.L.; Serafin, E.; Chamoles, N.A. An unexpected affected female patient in a classical Lesch-Nyhan family. Mol. Genet. Metab. 2000, 69, 263-268.
10. De Gregorio, L.; Jinnah, H.A.; Harris, J.C.; Nyhan, W.L.; Schrethen, O.J.; Trombley, L.M.; O'Neill, J.P. Lesch-Nyhan disease in a female with a clinically normal monozygotic twin. Mol. Genet. Metab. 2005, 85, 70-77.
11. Jinnah, H.A.; De Gregorio, L.; Harris, L.C.; Nyhan, W.L.; O'Neill, J.P. The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat. Res. 2000, 463, 309-326.
12. Jinnah, H.A.; Harris, J.C.; Nyhan, W.L; O'Neill, J.P. The spectrum of mutations causing HPRT deficiency: An update. Nucleosides Nucleotides Nucleic Acids 2004, 23, 1153-1160.