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Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome.

作者信息

Rijksen G, Staal G E, van der Vlist M J, Beemer F a, Troost J, Gutensohn W, van Laarhoven J P, de Bruyn C H

出版信息

Hum Genet. 1981;57(1):39-47. doi: 10.1007/BF00271165.

DOI:10.1007/BF00271165

PMID:7262868

Abstract

摘要

相似文献

Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome.

Hum Genet. 1981;57(1):39-47. doi: 10.1007/BF00271165.

[Lesch-Nyhan disease studied in intact fibroblasts].

An Esp Pediatr. 1983 May;18(5):394-8.

Adenine phosphoribosyl transferase deficiency in association with sub-normal hypoxanthine phophoribosyl transferase in families of Lesch--Nyhan patients.

Biochem Med. 1978 Apr;19(2):252-9. doi: 10.1016/0006-2944(78)90027-3.

Inherited deficiency of hypoxanthine-guanine phosphoribosyltransferase in X-linked uric aciduria (the Lesch-Nyhan syndrome and its variants).

Adv Hum Genet. 1976;6:75-163. doi: 10.1007/978-1-4615-8264-9_2.

Hypoxanthine-guanine phosphoribosyl transferase (HGPRT) deficiency in a girl.

Adv Exp Med Biol. 1984;165 Pt A:13-8. doi: 10.1007/978-1-4684-4553-4_3.

A female case of the Leach-Nyhan syndrome.

Tohoku J Exp Med. 1982 Jul;137(3):275-82. doi: 10.1620/tjem.137.275.

Increased de novo purine synthesis in cultured skin fibroblasts from heterozygotes for the Lesch-Nyhan syndrome. A sensitive marker for carrier detection.

Hum Hered. 1979;29(1):64-8. doi: 10.1159/000153018.

Genetic heterogeneity of hypoxanthine-phosphoribosyl transferase in human fibroblasts of 3 families.

Clin Genet. 1977 Mar;11(3):193-200. doi: 10.1111/j.1399-0004.1977.tb01299.x.

Lesch-Nyhan syndrome: biochemical characterization of a case with attenuated behavioral manifestation.

Enzyme. 1984;31(1):55-60.

A case of severe hypoxanthine-guanine phosphoribosyl transferase deficiency.

J Inherit Metab Dis. 1985;8(2):79. doi: 10.1007/BF01801670.

引用本文的文献

Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase.

Mol Genet Metab. 2013 Nov;110(3):268-74. doi: 10.1016/j.ymgme.2013.08.016. Epub 2013 Sep 8.

Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.

Brain. 2014 May;137(Pt 5):1282-303. doi: 10.1093/brain/awt202. Epub 2013 Aug 22.

Effect of hypoxanthine, antioxidants and allopurinol on cholinesterase activities in rats.

J Neural Transm (Vienna). 2013 Sep;120(9):1359-67. doi: 10.1007/s00702-013-0989-x. Epub 2013 Feb 12.

Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene.

J Biol Chem. 2012 Jan 27;287(5):2997-3008. doi: 10.1074/jbc.M111.317701. Epub 2011 Dec 7.

Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants.

Hum Genet. 2011 Jan;129(1):71-8. doi: 10.1007/s00439-010-0901-9. Epub 2010 Oct 28.

Attenuated variants of Lesch-Nyhan disease.

Brain. 2010 Mar;133(Pt 3):671-89. doi: 10.1093/brain/awq013. Epub 2010 Feb 22.

Intrastriatal hypoxanthine reduces Na(+),K (+)-ATPase activity and induces oxidative stress in the rats.

Metab Brain Dis. 2007 Mar;22(1):1-11. doi: 10.1007/s11011-006-9037-y. Epub 2007 Jan 17.

Intrastriatal injection of hypoxanthine reduces striatal serotonin content and impairs spatial memory performance in rats.

Metab Brain Dis. 2007 Mar;22(1):67-76. doi: 10.1007/s11011-006-9038-x. Epub 2007 Jan 13.

Analysis of abnormalities in purine metabolism leading to gout and to neurological dysfunctions in man.

Biochem J. 1998 Feb 1;329 ( Pt 3)(Pt 3):477-87. doi: 10.1042/bj3290477.

Identification of two new nucleotide mutations (HPRTUtrecht and HPRTMadrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene.

Hum Genet. 1993 Jun;91(5):451-4. doi: 10.1007/BF00217770.

本文引用的文献

Protein measurement with the Folin phenol reagent.

J Biol Chem. 1951 Nov;193(1):265-75.

Studies on hypoxanthine-guanine phosphoribosyltransferase in fibroblasts from patients with the Lesch-Nyhan syndrome. Evidence for genetic heterogeneity.

J Biol Chem. 1971 May 10;246(9):2953-8.

Allopurinol: alteration in pyrimidine metabolism in man.

Science. 1970 Jul 24;169(3943):388-90. doi: 10.1126/science.169.3943.388.

Hypoxanthine-guanine phosphoribosyltransferase deficiency: activity in normal, mutant, and heterozygote-cultured human skin fibroblasts.

Proc Natl Acad Sci U S A. 1970 Mar;65(3):577-84. doi: 10.1073/pnas.65.3.577.

Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase: intermediate enzyme deficiency in heterozygote red cells.

Ann Intern Med. 1972 Feb;76(2):285-7. doi: 10.7326/0003-4819-76-2-285.

Studies on hair roots for carrier detection in hypoxanthine-quanine phosphoribosyl transferase deficiency.

Clin Genet. 1974;5(5):449-56. doi: 10.1111/j.1399-0004.1974.tb01718.x.

The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.

Q J Med. 1973 Apr;42(166):423-40.

An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome). I. Clinical studies.

Clin Genet. 1973;4(4):348-52. doi: 10.1111/j.1399-0004.1973.tb01930.x.

[Hyperuricosuric encephalopathies with self-mutilations].

Rev Rhum Mal Osteoartic. 1973 Apr;40(4):265-70.

Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome.

J Clin Invest. 1972 Jul;51(7):1805-12. doi: 10.1172/JCI106982.

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Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome.

作者信息

Rijksen G, Staal G E, van der Vlist M J, Beemer F a, Troost J, Gutensohn W, van Laarhoven J P, de Bruyn C H

出版信息

Hum Genet. 1981;57(1):39-47. doi: 10.1007/BF00271165.

DOI:10.1007/BF00271165

PMID:7262868

Abstract

摘要

相似文献

Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome.

Hum Genet. 1981;57(1):39-47. doi: 10.1007/BF00271165.

[Lesch-Nyhan disease studied in intact fibroblasts].

An Esp Pediatr. 1983 May;18(5):394-8.

Adenine phosphoribosyl transferase deficiency in association with sub-normal hypoxanthine phophoribosyl transferase in families of Lesch--Nyhan patients.

Biochem Med. 1978 Apr;19(2):252-9. doi: 10.1016/0006-2944(78)90027-3.

Inherited deficiency of hypoxanthine-guanine phosphoribosyltransferase in X-linked uric aciduria (the Lesch-Nyhan syndrome and its variants).

Adv Hum Genet. 1976;6:75-163. doi: 10.1007/978-1-4615-8264-9_2.

Hypoxanthine-guanine phosphoribosyl transferase (HGPRT) deficiency in a girl.

Adv Exp Med Biol. 1984;165 Pt A:13-8. doi: 10.1007/978-1-4684-4553-4_3.

A female case of the Leach-Nyhan syndrome.

Tohoku J Exp Med. 1982 Jul;137(3):275-82. doi: 10.1620/tjem.137.275.

Increased de novo purine synthesis in cultured skin fibroblasts from heterozygotes for the Lesch-Nyhan syndrome. A sensitive marker for carrier detection.

Hum Hered. 1979;29(1):64-8. doi: 10.1159/000153018.

Genetic heterogeneity of hypoxanthine-phosphoribosyl transferase in human fibroblasts of 3 families.

Clin Genet. 1977 Mar;11(3):193-200. doi: 10.1111/j.1399-0004.1977.tb01299.x.

Lesch-Nyhan syndrome: biochemical characterization of a case with attenuated behavioral manifestation.

Enzyme. 1984;31(1):55-60.

A case of severe hypoxanthine-guanine phosphoribosyl transferase deficiency.

J Inherit Metab Dis. 1985;8(2):79. doi: 10.1007/BF01801670.

引用本文的文献

Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase.

Mol Genet Metab. 2013 Nov;110(3):268-74. doi: 10.1016/j.ymgme.2013.08.016. Epub 2013 Sep 8.

Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.

Brain. 2014 May;137(Pt 5):1282-303. doi: 10.1093/brain/awt202. Epub 2013 Aug 22.

Effect of hypoxanthine, antioxidants and allopurinol on cholinesterase activities in rats.

J Neural Transm (Vienna). 2013 Sep;120(9):1359-67. doi: 10.1007/s00702-013-0989-x. Epub 2013 Feb 12.

Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene.

J Biol Chem. 2012 Jan 27;287(5):2997-3008. doi: 10.1074/jbc.M111.317701. Epub 2011 Dec 7.

Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants.

Hum Genet. 2011 Jan;129(1):71-8. doi: 10.1007/s00439-010-0901-9. Epub 2010 Oct 28.

Attenuated variants of Lesch-Nyhan disease.

Brain. 2010 Mar;133(Pt 3):671-89. doi: 10.1093/brain/awq013. Epub 2010 Feb 22.

Intrastriatal hypoxanthine reduces Na(+),K (+)-ATPase activity and induces oxidative stress in the rats.

Metab Brain Dis. 2007 Mar;22(1):1-11. doi: 10.1007/s11011-006-9037-y. Epub 2007 Jan 17.

Intrastriatal injection of hypoxanthine reduces striatal serotonin content and impairs spatial memory performance in rats.

Metab Brain Dis. 2007 Mar;22(1):67-76. doi: 10.1007/s11011-006-9038-x. Epub 2007 Jan 13.

Analysis of abnormalities in purine metabolism leading to gout and to neurological dysfunctions in man.

Biochem J. 1998 Feb 1;329 ( Pt 3)(Pt 3):477-87. doi: 10.1042/bj3290477.

Identification of two new nucleotide mutations (HPRTUtrecht and HPRTMadrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene.

Hum Genet. 1993 Jun;91(5):451-4. doi: 10.1007/BF00217770.

本文引用的文献

Protein measurement with the Folin phenol reagent.

J Biol Chem. 1951 Nov;193(1):265-75.

Studies on hypoxanthine-guanine phosphoribosyltransferase in fibroblasts from patients with the Lesch-Nyhan syndrome. Evidence for genetic heterogeneity.

J Biol Chem. 1971 May 10;246(9):2953-8.

Allopurinol: alteration in pyrimidine metabolism in man.

Science. 1970 Jul 24;169(3943):388-90. doi: 10.1126/science.169.3943.388.

Hypoxanthine-guanine phosphoribosyltransferase deficiency: activity in normal, mutant, and heterozygote-cultured human skin fibroblasts.

Proc Natl Acad Sci U S A. 1970 Mar;65(3):577-84. doi: 10.1073/pnas.65.3.577.

Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase: intermediate enzyme deficiency in heterozygote red cells.

Ann Intern Med. 1972 Feb;76(2):285-7. doi: 10.7326/0003-4819-76-2-285.

Studies on hair roots for carrier detection in hypoxanthine-quanine phosphoribosyl transferase deficiency.

Clin Genet. 1974;5(5):449-56. doi: 10.1111/j.1399-0004.1974.tb01718.x.

The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.

Q J Med. 1973 Apr;42(166):423-40.

An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome). I. Clinical studies.

Clin Genet. 1973;4(4):348-52. doi: 10.1111/j.1399-0004.1973.tb01930.x.

[Hyperuricosuric encephalopathies with self-mutilations].

Rev Rhum Mal Osteoartic. 1973 Apr;40(4):265-70.

Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome.

J Clin Invest. 1972 Jul;51(7):1805-12. doi: 10.1172/JCI106982.