A new HGPRT-deficient phenotype?
作者信息
Kelly S, Hart E J, Desjardins L
出版信息
J Med Genet. 1972 Dec;9(4):482-4. doi: 10.1136/jmg.9.4.482.
Abstract
摘要
相似文献
1
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.
2
Activation of variants of hypoxanthine-guanine phosphoribosyl transferase by the normal enzyme.正常酶对次黄嘌呤 - 鸟嘌呤磷酸核糖基转移酶变体的激活作用。
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[Hyperuricemia due to hypoxanthine-guanine-phosphoribosyltransferase deficiency].
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Familial hyperphosphatase with mental retardation, seizures, and neurologic deficits.伴有智力发育迟缓、癫痫发作和神经功能缺损的家族性高磷酸酶症
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The Lesch-Nyhan syndrome. First case description in a South African family.莱施-奈恩综合征。南非一个家族中的首例病例描述。
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The Lesch-Nyhan syndrome.莱施-奈恩综合征。
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Hyperuricaemia and choreoathetosis in a child without mental retardation or self-mutilation - a new HPRT variant.一名无智力障碍或自残行为儿童的高尿酸血症和舞蹈手足徐动症——一种新的次黄嘌呤-鸟嘌呤磷酸核糖转移酶（HPRT）变异型
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本文引用的文献
1
Alterations in purine nucleotide pyrophosphorylases and resistance to purine analogues.嘌呤核苷酸焦磷酸化酶的改变与对嘌呤类似物的抗性
Biochim Biophys Acta. 1961 Oct 14;53:166-73. doi: 10.1016/0006-3002(61)90803-4.
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Studies on the fibrinogen, dextran and phytohemagglutinin methods of isolating leukocytes.关于纤维蛋白原、右旋糖酐和植物血凝素分离白细胞方法的研究。
Blood. 1956 May;11(5):436-54.
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Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.与一种X连锁人类神经疾病及嘌呤过度合成相关的酶缺陷。
Science. 1967 Mar 31;155(3770):1682-4. doi: 10.1126/science.155.3770.1682.
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Hyperuricemia and mental retardation with athetosis and self-mutilation.
Am J Dis Child. 1967 Feb;113(2):195-206. doi: 10.1001/archpedi.1967.02090170059003.
5
6
Inheritance of purine phosphoribosyltransferases in man.人类嘌呤磷酸核糖转移酶的遗传
Am J Hum Genet. 1969 Jan;21(1):61-70.
7
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.
8
Absence of mosaicism in the lymphocyte in X-linked congenital hyperuricosuria.X连锁先天性高尿酸尿症患者淋巴细胞中不存在嵌合体现象。
Life Sci. 1968 Jun 15;7(12):587-91. doi: 10.1016/0024-3205(68)90079-9.
9
X-linked primary hyperuricaemia (hypoxanthine-guanine phosphoribosyltransferase deficiency encephalopathy.X连锁原发性高尿酸血症（次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏性脑病）
J Ment Defic Res. 1968 Jun;12(2):100-7. doi: 10.1111/j.1365-2788.1968.tb00248.x.
10
Lesch-Nyhan syndrome treated from the early neonatal period.
Pediatrics. 1968 Aug;42(2):357-9.
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