Prenatal diagnosis of metachromatic leukodystrophy: a diagnosis with amniotic fluid by DEAE-Sepharose column chromatography and its confirmation by kidney lipid analysis.

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作者信息

Eto Y, Tahara T, Koda N, Yamaguchi S

出版信息

J Inherit Metab Dis. 1982;5(2):77-8. doi: 10.1007/BF01799995.

DOI:10.1007/BF01799995

PMID:6820428

Abstract

摘要

相似文献

Prenatal diagnosis of metachromatic leukodystrophy: a diagnosis with amniotic fluid by DEAE-Sepharose column chromatography and its confirmation by kidney lipid analysis.

J Inherit Metab Dis. 1982;5(2):77-8. doi: 10.1007/BF01799995.

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[Prenatal diagnosis of metachromatic leukodystrophy].[异染性脑白质营养不良的产前诊断]

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Prenatal exclusion of metachromatic leukodystrophy by estimation of arylsulphatase A activity in chorion and cultured amniotic fluid cells.通过评估绒毛膜和培养羊水细胞中的芳基硫酸酯酶A活性对异染性脑白质营养不良进行产前排除。

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Prenatal diagnosis and its pathologic confirmation.产前诊断及其病理确诊

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Metachromatic leukodystrophy. I. Prenatal detection of arylsulphatase A deficiency.异染性脑白质营养不良。I. 芳基硫酸酯酶A缺乏症的产前检测。

Clin Genet. 1973;4(3):256-9.

Prenatal diagnosis of metachromatic leukodystrophy in a family with pseudo arylsulfatase A deficiency by the cerebroside sulfate loading test.通过硫酸脑苷脂负荷试验对一家假性芳基硫酸酯酶A缺乏症患者进行异染性脑白质营养不良的产前诊断。

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本文引用的文献

Globoid cell leukodystrophy (Krabbe's disease): isolation of myelin with normal glycolipid composition.球形细胞脑白质营养不良症（克拉伯病）：具有正常糖脂组成的髓磷脂的分离。

J Lipid Res. 1970 Sep;11(5):473-9.

Enzymic studies of sulphatases in tissues of the normal human and in metachromatic leukodystrophy with multiple sulphatase deficiencies: arylsulphatases A, B and C, cerebroside sulphatase, psychosine sulphatase and steroid sulphatases.正常人组织及伴有多种硫酸酯酶缺乏的异染性脑白质营养不良中硫酸酯酶的酶学研究：芳基硫酸酯酶A、B和C、脑苷脂硫酸酯酶、鞘氨醇半乳糖苷硫酸酯酶及类固醇硫酸酯酶。

J Neurochem. 1974 Dec;23(6):1161-70. doi: 10.1111/j.1471-4159.1974.tb12213.x.

Arylsulfatase B deficiency in Maroteaux-Lamy syndrome cultured fibroblasts.马罗-拉米综合征培养成纤维细胞中的芳基硫酸酯酶B缺乏症

Biochem Biophys Res Commun. 1974 Jul 24;59(2):455-61. doi: 10.1016/s0006-291x(74)80001-x.

[Prenatal diagnosis of a case of metachromatic leucodystrophy (author's transl)].一例异染性脑白质营养不良的产前诊断（作者译）

Dtsch Med Wochenschr. 1975 Apr 25;100(17):951-3.

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