[Glucocerebrosidase deficiency and tentative identification of heterozygous carriers in a family with Gaucher's disease type I (author's transl)].
作者信息
Harzer K
出版信息
Klin Wochenschr. 1974 Dec 15;52(24):1177-8. doi: 10.1007/BF01466738.
PMID:4456014
Abstract
摘要
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[Glucocerebrosidase deficiency and tentative identification of heterozygous carriers in a family with Gaucher's disease type I (author's transl)].1型戈谢病患者家系中的葡萄糖脑苷脂酶缺乏及杂合子携带者的初步鉴定（作者译）
Klin Wochenschr. 1974 Dec 15;52(24):1177-8. doi: 10.1007/BF01466738.
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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.
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Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood.利用少量静脉血样本诊断戈谢病和尼曼-皮克病。
Science. 1967 Jan 6;155(3758):86-8. doi: 10.1126/science.155.3758.86.
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Identification of heterozygous carriers of lipid storage diseases. Current status and clinical applications.
Am J Med. 1971 Oct;51(4):423-31. doi: 10.1016/0002-9343(71)90249-x.
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Inheritance of the enzyme deficiency in three neurolipidoses: variant 0 of Tay-Sachs disease (Sandhoff's disease), classic Tay-Sachs disease, and metachromatic leukodystrophy. Identification of the heterozygous carriers.三种神经脂质贮积症中酶缺乏的遗传：泰-萨克斯病（桑德霍夫病）的0型变体、典型泰-萨克斯病和异染性脑白质营养不良。杂合子携带者的鉴定。
Humangenetik. 1973;20(1):9-24. doi: 10.1007/BF00280871.
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Isolation and characterization of glucocerebrosidase from human placental tissue.从人胎盘组织中分离和鉴定葡糖脑苷脂酶
J Biol Chem. 1973 Aug 10;248(15):5256-61.
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Letters: A simple sphingomyelinase determination for Niemann-Pick disease: differential diagnosis of types A, B and C.信函：一种用于尼曼-匹克病的简单鞘磷脂酶测定法：A、B和C型的鉴别诊断
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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。
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