Adenine phosphoribosyl transferase deficiency in association with sub-normal hypoxanthine phophoribosyl transferase in families of Lesch--Nyhan patients.
作者信息
Itiaba K, Melançon S B, Dallaire L, Crawhall J C
出版信息
Biochem Med. 1978 Apr;19(2):252-9. doi: 10.1016/0006-2944(78)90027-3.
PMID:656085
Abstract
摘要
相似文献
1
Adenine phosphoribosyl transferase deficiency in association with sub-normal hypoxanthine phophoribosyl transferase in families of Lesch--Nyhan patients.莱施-奈恩综合征患者家族中腺嘌呤磷酸核糖转移酶缺乏与次正常的次黄嘌呤磷酸核糖转移酶相关。
Biochem Med. 1978 Apr;19(2):252-9. doi: 10.1016/0006-2944(78)90027-3.
2
Prenatal diagnosis of Lesch-Nyhan syndrome and some characteristics of hypoxanthine-guanine phosphoribosyltransferase and adenine phosphoribosyltransferase in human tissues and cultivated cells.莱施-奈恩综合征的产前诊断以及人体组织和培养细胞中次黄嘌呤-鸟嘌呤磷酸核糖转移酶和腺嘌呤磷酸核糖转移酶的一些特性
Pediatr Res. 1980 Jun;14(6):825-9. doi: 10.1203/00006450-198006000-00010.
3
[Lesch-Nyhan disease studied in intact fibroblasts].[在完整成纤维细胞中研究的莱施-奈恩病]
An Esp Pediatr. 1983 May;18(5):394-8.
4
Simple screening methods for hypoxanthine-guanine phosphoribosyltransferase and adenine phosphoribosyltransferase deficiencies using dried blood spots on filter paper.使用滤纸上的干血斑对次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶和腺嘌呤磷酸核糖转移酶缺乏症进行的简易筛查方法。
Ann Clin Biochem. 1986 Sep;23 ( Pt 5):529-32. doi: 10.1177/000456328602300507.
5
6
A female case of the Leach-Nyhan syndrome.一例女性利奇-尼汉综合征病例。
Tohoku J Exp Med. 1982 Jul;137(3):275-82. doi: 10.1620/tjem.137.275.
7
Simple screening methods for disorders of purine metabolism using dried blood and or urine spots on filter paper.使用滤纸上的干血斑和/或尿斑对嘌呤代谢紊乱进行的简易筛查方法。
Adv Exp Med Biol. 1989;253A:123-7. doi: 10.1007/978-1-4684-5673-8_19.
8
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.
9
[Activity of erythrocyte purine phosphoribosyltransferases in Lesch-Nyhan syndrome].[莱施-奈恩综合征中红细胞嘌呤磷酸核糖基转移酶的活性]
Vopr Med Khim. 1981 Mar-Apr;27(2):215-20.
10
Prenatal diagnosis by enzyme analysis in 15 pregnancies at risk for the Lesch-Nyhan syndrome.通过酶分析对15例有莱施-奈恩综合征风险的妊娠进行产前诊断。
Prenat Diagn. 1996 Jul;16(7):647-51. doi: 10.1002/(SICI)1097-0223(199607)16:7<647::AID-PD932>3.0.CO;2-S.
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Alterations in nucleotide content of human lung fibroblasts infected with Mycoplasma pneumoniae.肺炎支原体感染的人肺成纤维细胞核苷酸含量的改变
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De novo purine synthesis, purine salvage, and DNA synthesis in normal and Lesch-Nyhan fibroblasts infected with Mycoplasma pneumoniae.肺炎支原体感染的正常及莱施-奈恩成纤维细胞中的嘌呤从头合成、嘌呤补救合成及DNA合成
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Lesch-Nyhan syndrome: molecular investigation of three French Canadian families using a hypoxanthine-guanine phosphoribosyltransferase cDNA probe.莱施-奈恩综合征：使用次黄嘌呤-鸟嘌呤磷酸核糖基转移酶cDNA探针对三个法裔加拿大家庭进行分子研究。
Hum Genet. 1988 Dec;81(1):4-8. doi: 10.1007/BF00283719.
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