Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal α-neuraminidase

被引：18

作者：

Loren D.J. ^{[1
,7
]}

Campos Y. ^{[2
,3
]}

d'Azzo A. ^{[2
,3
]}

Wyble L. ^{[4
]}

Grange D.K. ^{[1
]}

Gilbert-Barness E. ^{[5
]}

White F.V. ^{[6
]}

Hamvas A. ^{[1
,8
]}

机构：

[1] Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO

[2] Department of Genetics and Tumor Cell Biology, St. Jude Children's Research Hospital, Memphis, TN

[3] Department of Anatomy and Neurobiology, University of Tennessee, Memphis, TN

[4] Department of Pediatrics, University of South Florida, Tampa, FL

[5] Department of Pathology, University of South Florida, Tampa, FL

[6] Department of Pathology, Washington University School of Medicine, St. Louis, MO

[7] Division of Neonatology, University of Washington, Seattle, WA

[8] Department of Pediatrics, Washington University, St. Louis Children's Hospital, St. Louis, MO 63110, One Children's Place

来源：

Journal of Perinatology | 2005年 / 25卷 / 7期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1038/sj.jp.7211335

中图分类号：

学科分类号：

摘要：

Sialidosis is a lysosomal storage disease characterized by accumulation of sialylated oligosaccharides in tissues, blood and urine and is caused by mutations in the gene for lysosomal α-neuraminidase (NEU1). There is wide variability in the age of onset and severity of symptoms in sialidosis. We report here a case of sialidosis due to novel mutations in NEU1 presenting as severe nonimmune hydrops fetalis. © 2005 Nature Publishing Group All rights reserved.

引用

页码：491 / 494

页数：3

共 18 条

[1]

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[2]

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[3]

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[5]

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[6]

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[7]

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[8]

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[9]

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[10]

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