Phosphomannose isomerase deficiency: A carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation

被引：133

作者：

Jaeken, J ^{[1
]}

Matthijs, G

Saudubray, JM

Dionisi-Vici, C

Bertini, E

de Lonlay, P

Henri, H

Carchon, H

Schollen, E

Van Schaftingen, E

机构：

[1] Katholieke Univ Leuven, Dept Pediat, Louvain, Belgium

[2] Katholieke Univ Leuven, Ctr Human Genet, Louvain, Belgium

[3] Hop Necker Enfants Malad, Clin Genet Med, Paris, France

[4] Bambino Gesu Hosp, Dept Metab, Rome, Italy

[5] Bambino Gesu Hosp, Dept Neuropediat, Rome, Italy

[6] Ctr Hosp Univ Vaudois, Lab Cent Chim Clin, Lausanne, Switzerland

[7] Univ Louvain, Physiol Chem Lab, Int Inst Cellular & Mol Pathol, Brussels, Belgium

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 1998年 / 62卷 / 06期

关键词：

D O I：

10.1086/301873

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：1535 / 1539

页数：5

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