伴有磷酸甘露糖变位酶活性缺乏但血浆糖蛋白模式正常的先天性糖基化障碍Ia型 - Suppr

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超能文献

Congenital disorder of glycosylation Ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern.

作者信息

Dupre T, Cuer M, Barrot S, Barnier A, Cormier-Daire V, Munnich A, Durand G, Seta N

机构信息

Laboratoire de Biochimie A, Hôpital Bichat, 75877 Paris Cédex 18, France.

出版信息

Clin Chem. 2001 Jan;47(1):132-4.

PMID:11148191

Abstract

摘要

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