妊娠早期对Ⅱ型和Ⅲ型糖原贮积病的诊断。 - Suppr

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超能文献

First trimester diagnosis of glycogen storage disease type II and type III.

作者信息

Shin Y S, Rieth M, Tausenfreund J, Endres W

机构信息

Universitäts Kinderklinik, München, FRG.

出版信息

J Inherit Metab Dis. 1989;12 Suppl 2:289-91. doi: 10.1007/BF03335401.

DOI:10.1007/BF03335401

PMID:2512428

Abstract

摘要

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Diagnosis of glycogen storage disease.糖原贮积病的诊断。

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本文引用的文献

A simple assay for amylo-1,6-glucosidase to detect heterozygotes for glycogenosis type III in erythrocytes.

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Diagnosis of Pompe's disease using leukocyte preparations. Kinetic and immunological studies of 1,4-alpha-glucosidase in human fetal and adult tissues and cultured cells.利用白细胞制剂诊断庞贝氏病。人胎儿及成人组织和培养细胞中1,4-α-葡萄糖苷酶的动力学和免疫学研究。

Clin Chim Acta. 1985 May 15;148(1):9-19. doi: 10.1016/0009-8981(85)90295-5.

Clin Genet. 1986 Oct;30(4):298-301. doi: 10.1111/j.1399-0004.1986.tb00610.x.

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