莱施-奈恩综合征与凯利-西格米勒综合征中的嘌呤代谢 - Suppr

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超能文献

Purine metabolism in Lesch-Nyhan syndrome versus Kelley-Seegmiller syndrome.

作者信息

Mateos E A, Puig J G

机构信息

Division of Clinical Biochemistry, La Paz Hospital, Universidad Autónoma, Madrid, Spain.

出版信息

J Inherit Metab Dis. 1994;17(1):138-42. doi: 10.1007/BF00735419.

DOI:10.1007/BF00735419

PMID:8051925

Abstract

摘要

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Purine metabolism in Lesch-Nyhan syndrome versus Kelley-Seegmiller syndrome.莱施-奈恩综合征与凯利-西格米勒综合征中的嘌呤代谢

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[Enzymopathies as a cause of hyperuricemia].

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Heberden oration 1979: human aberrations of purine metabolism and their significance for rheumatology.1979年赫伯登演讲：嘌呤代谢的人类异常及其对风湿病学的意义。

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Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling?莱施-奈恩病的临床特征与次黄嘌呤或鸟嘌呤再循环的关联更为密切吗？

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本文引用的文献

A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION.一种尿酸代谢与中枢神经系统功能的家族性疾病。

Am J Med. 1964 Apr;36:561-70. doi: 10.1016/0002-9343(64)90104-4.

[Clinical spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency: study of 12 cases].[次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶缺乏症的临床谱：12例研究]

Med Clin (Barc). 1994 May 14;102(18):681-7.

Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome.次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶部分缺乏伴莱施 - 奈恩综合征完全表现。

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

Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity.次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶变体：临床表型与酶活性的相关性

J Inherit Metab Dis. 1981;4(4):203-6. doi: 10.1007/BF02263652.

Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout.痛风中的次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶缺乏症

Ann Intern Med. 1969 Jan;70(1):155-206. doi: 10.7326/0003-4819-70-1-155.

The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶缺乏症的谱系

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

Hereditary xanthinuria. Evidence for enhanced hypoxanthine salvage.遗传性黄嘌呤尿症。次黄嘌呤补救增强的证据。

J Clin Invest. 1987 Mar;79(3):847-52. doi: 10.1172/JCI112893.

Long-term follow-up of ten patients with Lesch-Nyhan syndrome.

Neuropediatrics. 1986 Aug;17(3):158-61. doi: 10.1055/s-2008-1052518.

Partial deficit of hypoxanthine guanine phosphoribosyl transferase presenting as acute renal failure.以急性肾衰竭为表现的次黄嘌呤鸟嘌呤磷酸核糖转移酶部分缺乏症

Nephron. 1987;46(2):179-81. doi: 10.1159/000184337.

Lesch-Nyhan syndrome with delayed onset of self-mutilation: hyperactivity of interneurons at the brainstem and blink reflex.

Acta Neurol Scand. 1990 Feb;81(2):184-7. doi: 10.1111/j.1600-0404.1990.tb00960.x.

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