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Volumn 26, Issue 3, 2007, Pages 255-258

Hypoxanthine-guanine phosphoribosyltransferase deficiency: Biochemical and molecular findings in six Argentine patients

Author keywords

HPRT; HPRT mutation; Hypoxanthine guanine phosphoribosyltransferase deficiency; Lesch Nyhan disease; Lesch Nyhan variant

Indexed keywords

HYPOXANTHINE; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; URIC ACID; XANTHINE;

EID: 34147188524     PISSN: 15257770     EISSN: 15322335     Source Type: Journal    
DOI: 10.1080/15257770701257269     Document Type: Article
Times cited : (6)

References (7)
  • 1
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    • Lesch-Nyhan disease and its variants
    • 8th ed, Scriver, C.R, Beaudet, A.L, Sly, W.S, Valle, D, eds. McGraw-Hill, New York
    • Jinnah, H.A.; Friedman, T. Lesch-Nyhan disease and its variants. In The Metabolic and Molecular Bases of Inherited Disease, 8th ed.; Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D., eds. McGraw-Hill, New York, 2001. pp. 2537-2570.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 2537-2570
    • Jinnah, H.A.1    Friedman, T.2
  • 3
    • 0033799868 scopus 로고    scopus 로고
    • The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases
    • Jinnah, H.A.; De Gregorio, L.; Harris, J.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.
    • (2000) Mutat. Res , vol.463 , pp. 309-326
    • Jinnah, H.A.1    De Gregorio, L.2    Harris, J.C.3    Nyhan, W.L.4    O'Neill, J.P.5
  • 4
    • 34147189446 scopus 로고    scopus 로고
    • Simmonds, H.A.; Duley, J.A.; Davies, P.M. Analysis of purines and pyrimidines in blood, urine, and other physiological fluids. In Techniques in Diagnostic Human Biochemical Genetics: A Laboratory Manual; ED. Hommes, F.A., Wiley-Liss, New York, 1991, 397-424.
    • Simmonds, H.A.; Duley, J.A.; Davies, P.M. Analysis of purines and pyrimidines in blood, urine, and other physiological fluids. In Techniques in Diagnostic Human Biochemical Genetics: A Laboratory Manual; ED. Hommes, F.A., Wiley-Liss, New York, 1991, 397-424.
  • 5
    • 1842471198 scopus 로고    scopus 로고
    • A novel missense mutation, 584A>C (S195Y), in two unrelated Argentine patients with hypoxanthine-guanine phosphoribosyltransferase deficiency, neurological variant
    • Lar'overe, L.E.; Romero, N.; Fairbanks, L.D.; Conde, C.; Guelbert, N.; Rosa, A.L.; Dodelson de Kremer, R. A novel missense mutation, 584A>C (S195Y), in two unrelated Argentine patients with hypoxanthine-guanine phosphoribosyltransferase deficiency, neurological variant. Mol. Genet. Metab. 2004, 81(4), 352-354.
    • (2004) Mol. Genet. Metab , vol.81 , Issue.4 , pp. 352-354
    • Lar'overe, L.E.1    Romero, N.2    Fairbanks, L.D.3    Conde, C.4    Guelbert, N.5    Rosa, A.L.6    Dodelson de Kremer, R.7
  • 6
    • 0025282802 scopus 로고
    • Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families
    • Gibbs, R.A.; Nguyen, P.N.; Edwards, A.; Civitello, A.B.; Caskey, C.T. Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. Genomics 1990, 7, 235-244.
    • (1990) Genomics , vol.7 , pp. 235-244
    • Gibbs, R.A.1    Nguyen, P.N.2    Edwards, A.3    Civitello, A.B.4    Caskey, C.T.5
  • 7
    • 0026591855 scopus 로고
    • A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency
    • Sculley, D.G.; Dawson, P.A.; Emmerson, B.T.; Gordon, R.B. A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Hum. Genet. 1992, 90(3), 195-120.
    • (1992) Hum. Genet , vol.90 , Issue.3 , pp. 195-120
    • Sculley, D.G.1    Dawson, P.A.2    Emmerson, B.T.3    Gordon, R.B.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.