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） - Suppr

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[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.

DOI:10.1007/BF01466738

PMID:4456014

Abstract

摘要

相似文献

[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.

Gaucher's disease, chronic adult type: a comparative study of glucocerebroside and methylumbelliferyl-glucopyranoside cleaving potency in leukocytes.戈谢病，慢性成人型：白细胞中葡萄糖脑苷脂和甲基伞形酮基 - 吡喃葡萄糖苷裂解能力的比较研究

Biomedicine. 1974 Jan;20(1):24-30.

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.

[Laboratory diagnosis of Gaucher's disease. Value of leukocyte beta-glucosidase determination].[戈谢病的实验室诊断。白细胞β-葡萄糖苷酶测定的价值]

Nouv Presse Med. 1972 Jun 3;1(23):1579-81.

Synthetic substrate beta-glucosidase activity in leukocytes: a reproducible method for the identification of patients and carriers of Gaucher's disease.白细胞中合成底物β-葡萄糖苷酶活性：一种用于鉴定戈谢病患者和携带者的可重复方法。

Clin Genet. 1978 Feb;13(2):145-53. doi: 10.1111/j.1399-0004.1978.tb04242.x.

Clinical and biochemical aspects of chronic Gaucher's disease.慢性戈谢病的临床和生化特征

Isr J Med Sci. 1974 Dec;10(12):1523-9.

The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of beta-glucosidase activity in peripheral blood leukocytes.通过检测外周血白细胞中β-葡萄糖苷酶活性缺乏来诊断成人型戈谢病及其携带者状态。

J Lab Clin Med. 1970 Nov;76(5):747-55.

Infantile Gaucher's disease: glucocerebrosidase deficiency in peripheral blood leukocytes and cultured fibroblasts.婴儿型戈谢病：外周血白细胞和培养的成纤维细胞中葡萄糖脑苷脂酶缺乏

Neuropadiatrie. 1975 Nov;6(4):377-82. doi: 10.1055/s-0028-1091678.

Chronic Gaucher's disease: heat-resistance of leukocyte glucocerebrosidase in relation to some clinical parameters.慢性戈谢病：白细胞葡萄糖脑苷脂酶的耐热性与某些临床参数的关系

Biomedicine. 1973 Aug 10;19(8):345-8.

Assay of beta-glucosidase and sphingomyelinase for identification of patients and carriers of Gaucher's and Niemann-Pick diseases.用于鉴定戈谢病和尼曼-匹克病患者及携带者的β-葡萄糖苷酶和鞘磷脂酶检测

Adv Exp Med Biol. 1978;101:707-17. doi: 10.1007/978-1-4615-9071-2_65.

引用本文的文献

Basic findings and current developments in sphingolipidoses.鞘脂贮积病的基本研究结果与当前进展

Hum Genet. 1979 Mar 12;47(2):113-34. doi: 10.1007/BF00273194.

本文引用的文献

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.

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.

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.

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.

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.

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

J Neurochem. 1973 Oct;21(4):999-1001. doi: 10.1111/j.1471-4159.1973.tb07545.x.

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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