Beta-glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease.
作者信息
Beutler E, Kuhl W, Trinidad F, Teplitz R, Nadler H
出版信息
Am J Hum Genet. 1971 Jan;23(1):62-6.
Abstract
摘要
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Beta-glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease.戈谢病纯合子和杂合子成纤维细胞中的β-葡萄糖苷酶活性。
Am J Hum Genet. 1971 Jan;23(1):62-6.
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本文引用的文献
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METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.葡萄糖脑苷脂的代谢。II. 戈谢病中酶缺乏的证据。
Biochem Biophys Res Commun. 1965 Jan 18;18:221-5. doi: 10.1016/0006-291x(65)90743-6.
2
Tissue acid hydrolase activities in Gaucher's disease.戈谢病中的组织酸性水解酶活性
Scand J Clin Lab Invest. 1968;22(1):62-4. doi: 10.3109/00365516809160739.
3
Chromosomal distribution in interspecific invitro hybrid cells.种间体外杂交细胞中的染色体分布
Exp Cell Res. 1968 Oct;52(2):379-91. doi: 10.1016/0014-4827(68)90479-5.
4
Role of amniocentesis in the intrauterine detection of genetic disorders.羊膜穿刺术在子宫内检测遗传疾病中的作用。
N Engl J Med. 1970 Mar 12;282(11):596-9. doi: 10.1056/NEJM197003122821105.
5
Detection of Gaucher's disease and its carrier state from fibroblast cultures.从成纤维细胞培养物中检测戈谢病及其携带者状态。
Lancet. 1970 Aug 15;2(7668):369. doi: 10.1016/s0140-6736(70)92907-7.
6
Detection of the defect of Gaucher's disease and its carrier state in peripheral-blood leucocytes.外周血白细胞中戈谢病缺陷及其携带者状态的检测。
Lancet. 1970 Mar 21;1(7647):612-3. doi: 10.1016/s0140-6736(70)91646-6.
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