Adult Gaucher's disease: kindred studies and demonstration of a deficiency of acid beta-glucosidase in cultured fibroblasts.
作者信息
Ho M W, Seck J, Schmidt D, Veath M L, Johnson W, Brady R O, O'Brien J S
出版信息
Am J Hum Genet. 1972 Jan;24(1):37-45.
Abstract
摘要
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Protein measurement with the Folin phenol reagent.使用福林酚试剂进行蛋白质测定。
J Biol Chem. 1951 Nov;193(1):265-75.
2
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.
3
GAUCHER'S DISEASE. HEREDITARY TRANSMISSION AND RACIAL DISTRIBUTION.高雪氏病。遗传传递与种族分布。
Arch Intern Med. 1964 Apr;113:543-9. doi: 10.1001/archinte.1964.00280100051009.
4
Separation and properties of beta-galactosidase, beta-glucosidase, beta-glucuronidase and N-acetyl-beta-glucosaminidase from rat kidney.大鼠肾脏中β-半乳糖苷酶、β-葡萄糖苷酶、β-葡萄糖醛酸酶和N-乙酰-β-葡萄糖胺酶的分离及性质
Biochem J. 1967 Feb;102(2):525-32. doi: 10.1042/bj1020525.
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The sphingolipidoses.鞘脂贮积症
N Engl J Med. 1966 Aug 11;275(6):312-8. doi: 10.1056/NEJM196608112750606.
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Identity of beta-glucosidase, beta-xylosidase and one of the beta-galactosidase activities in human liver when assayed with 4-methylumbelliferyl-beta-D-glycosides studies in cases of Gaucher's disease.用4-甲基伞形酮基-β-D-糖苷测定时，人肝脏中β-葡萄糖苷酶、β-木糖苷酶及其中一种β-半乳糖苷酶活性的鉴定：戈谢病病例研究
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