Prenatal diagnosis of two Hurler fetuses using an improved assay for methylumbelliferyl-alpha-L-iduronidase.

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作者信息

Stirling J L, Robinson D, Fensom A H, Benson P F, Baker J E, Button L R

出版信息

Lancet. 1979 Jul 7;2(8132):37. doi: 10.1016/s0140-6736(79)90197-1.

DOI:10.1016/s0140-6736(79)90197-1

PMID:87908

Abstract

摘要

相似文献

Prenatal diagnosis of two Hurler fetuses using an improved assay for methylumbelliferyl-alpha-L-iduronidase.

Lancet. 1979 Jul 7;2(8132):37. doi: 10.1016/s0140-6736(79)90197-1.

Prenatal exclusion of Hurler's disease by leucocyte alpha-L-iduronidase assay.

Prenat Diagn. 1983 Jan;3(1):61-3. doi: 10.1002/pd.1970030113.

Use of 4-trifluoromethylumbelliferyl-alpha-L-iduronide as a new substrate for detection of alpha-L-iduronidase deficiency in human tissues and for rapid prenatal diagnosis of Hurler disease.使用4-三氟甲基伞形酮基-α-L-艾杜糖苷作为检测人体组织中α-L-艾杜糖苷酶缺乏症以及快速进行黏多糖贮积症I型产前诊断的新底物。

J Inherit Metab Dis. 1991;14(2):134-9. doi: 10.1007/BF01800585.

Properties of alpha-L-iduronidase in cultured skin fibroblasts from alpha-L-iduronidase-deficient patients.来自α-L-艾杜糖醛酸酶缺乏症患者的培养皮肤成纤维细胞中α-L-艾杜糖醛酸酶的特性

Hum Genet. 1984;65(3):268-72. doi: 10.1007/BF00286515.

Correct prenatal diagnosis of a Hurler fetus where amniotic fluid cell cultures were of maternal origin.羊水细胞培养为母源性的黏多糖贮积症I型胎儿的正确产前诊断。

Prenat Diagn. 1981 Apr;1(2):121-4. doi: 10.1002/pd.1970010206.

[Use of 4-methylumbelliferryl-alpha-L-iduronide and 4-trifluoromethylumbelliferryl-alpha-L-iduronide for detecting alpha-L-iduronidase deficiencies in human tissue and for rapid prenatal diagnosis of Hurler disease].[使用4-甲基伞形酮基-α-L-艾杜糖醛酸酯和4-三氟甲基伞形酮基-α-L-艾杜糖醛酸酯检测人体组织中的α-L-艾杜糖醛酸酶缺乏症及用于黏多糖贮积症I型的快速产前诊断]

Vopr Med Khim. 1991 Jan-Feb;37(1):74-7.

Prenatal diagnosis of the Hurler syndrome: report on 40 pregnancies at risk.黏多糖贮积症Ⅰ型的产前诊断：40例高危妊娠报告

Prenat Diagn. 1983 Jul;3(3):179-86. doi: 10.1002/pd.1970030302.

Prenatal diagnosis of mucopolysaccharidosis I: A special difficulty arising from an unusually low enzyme activity in mother's cells.黏多糖贮积症 I 型的产前诊断：母亲细胞中酶活性异常低所带来的特殊困难。

Prenat Diagn. 1985 Mar-Apr;5(2):149-54. doi: 10.1002/pd.1970050209.

A fluorometric assay using 4-methylumbelliferyl alpha-L-iduronide for the estimation of alpha-L-iduronidase activity and the detection of Hurler and Scheie syndromes.一种使用4-甲基伞形酮基α-L-艾杜糖醛酸酯进行荧光测定的方法，用于评估α-L-艾杜糖醛酸酶活性以及检测Hurler综合征和Scheie综合征。

Clin Chim Acta. 1979 Mar 1;92(2):257-65. doi: 10.1016/0009-8981(79)90121-9.

The Hurler syndrome: detection of patients and heterozygotes using a microassay for alpha-L-iduronidase in fibroblasts.黏多糖贮积症Ⅰ型：利用成纤维细胞中α-L-艾杜糖醛酸酶的微量测定法检测患者及杂合子。

Clin Chim Acta. 1981 Oct 8;116(1):47-54. doi: 10.1016/0009-8981(81)90167-4.

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Mol Ther Methods Clin Dev. 2019 Mar 2;13:321-333. doi: 10.1016/j.omtm.2019.02.007. eCollection 2019 Jun 14.

Determination of Biological Variance and Validation of a Fluorometric Assay for Measurement of α-l-Iduronidase Activity in Dried Blood Spots Samples: The First Experience in Iran.干血斑样本中α-L-艾杜糖醛酸酶活性测定的生物学变异测定及荧光测定法验证：伊朗的首次经验。

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J Inherit Metab Dis. 2005;28(6):979-90. doi: 10.1007/s10545-005-0201-z.

Prenatal diagnosis of Hurler's syndrome--biochemical studies on the affected fetus.黏多糖贮积症Ⅰ型（胡尔勒氏综合征）的产前诊断——对患病胎儿的生化研究

Hum Genet. 1981;59(4):353-9. doi: 10.1007/BF00295471.

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