伴有神经疾病和自残行为的X连锁尿酸尿症：酶缺陷的诊断测试 - Suppr

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超能文献

X-linked uric aciduria with neurological disease and self-mutilation: diagnostic test for the enzyme defect.

作者信息

Fujimoto W Y, Greene M L, Seegmiller J E

出版信息

J Pediatr. 1968 Dec;73(6):920-2. doi: 10.1016/s0022-3476(68)80250-1.

DOI:10.1016/s0022-3476(68)80250-1

PMID:5696318

Abstract

摘要

相似文献

X-linked uric aciduria with neurological disease and self-mutilation: diagnostic test for the enzyme defect.伴有神经疾病和自残行为的X连锁尿酸尿症：酶缺陷的诊断测试

J Pediatr. 1968 Dec;73(6):920-2. doi: 10.1016/s0022-3476(68)80250-1.

Defects in purine metabolism and neurologic disease.嘌呤代谢缺陷与神经系统疾病。

Bull Los Angeles Neurol Soc. 1968 Apr;33(2):101-12.

Biochemistry of the X-linked uric aciduria--enzyme defect and its genetic variants.X连锁尿酸尿症的生物化学——酶缺陷及其基因变异

Arch Intern Med. 1972 Aug;130(2):199-206.

[Inborn hyperuricemia--an anomaly of uric acid metabolism in connection with psychomotor retardation, involuntary movements and self mutilation, Lesch-Nyhan syndrome].[先天性高尿酸血症——与精神运动发育迟缓、不自主运动和自残相关的尿酸代谢异常，莱施-奈恩综合征]

Nord Med. 1970 Jan 8;83(2):47-8.

Urine uric acid to creatinine rtio--a screening test for inherited disorders of purine metabolism. Phosphoribosyltransferase (PRT) deficiency in X-linked cerebral palsy and in a variant of gout.尿尿酸与肌酐比值——嘌呤代谢遗传性疾病的筛查试验。X连锁脑性瘫痪和痛风一种变异型中的磷酸核糖转移酶（PRT）缺乏症。

J Pediatr. 1968 Oct;73(4):583-92. doi: 10.1016/s0022-3476(68)80274-4.

Further studies of the enzyme composition of mutant cells in X-linked uric aciduria.X连锁尿酸尿症突变细胞酶成分的进一步研究。

Arch Intern Med. 1972 Aug;130(2):214-20.

[Lesh-Nyhan syndrome. A congenital defect of purine metabolism with the clinical symptoms of gout and central nervous disorders].[莱施-奈恩综合征。一种嘌呤代谢的先天性缺陷，伴有痛风和中枢神经系统紊乱的临床症状]

Dtsch Med Wochenschr. 1970 May 8;95(19):1077-80.

[Self mutilation of the lower lip, associated with athetosis and oligophrenia without purine metabolism disorder ("pseudo Lesch-Nyhan syndrome")].[下唇自残，伴手足徐动症和智力发育迟缓，无嘌呤代谢紊乱（“假性莱施-奈恩综合征”）]

Hautarzt. 1973 Apr;24(4):158-60.

Inborn terror of metabolism.先天性代谢恐惧

JAMA. 1970 Dec 21;214(12):2186-7. doi: 10.1001/jama.214.12.2186.

Molecular approaches to the central nervous system: AAAS Symposium 29-31 December 1968. Dallas, Texas.

Science. 1968 Dec 20;162(3860):1416-7. doi: 10.1126/science.162.3860.1416.

引用本文的文献

Hyperuricaemia: some biochemical aspects.高尿酸血症：一些生化方面

Proc R Soc Med. 1969 Aug;62(8):853-7. doi: 10.1177/003591576906200846.

Metabolism of purines in cultured normal and HPRT-deficient human fibroblasts.培养的正常和次黄嘌呤磷酸核糖转移酶缺陷型人成纤维细胞中嘌呤的代谢

Biochem Genet. 1973 Feb;8(2):149-56. doi: 10.1007/BF00485542.

A new HGPRT-deficient phenotype?一种新的次黄嘌呤鸟嘌呤磷酸核糖转移酶缺陷型表型？

J Med Genet. 1972 Dec;9(4):482-4. doi: 10.1136/jmg.9.4.482.

Developmental changes in purine phosphoribosyltransferases in human and rat tissues.人类和大鼠组织中嘌呤磷酸核糖转移酶的发育变化。

Biochem J. 1976 Dec 15;160(3):565-76. doi: 10.1042/bj1600565.

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