Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase.
Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase.
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DOI：
10.1038/sj.jp.7211335
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发表时间：
2005-07-01
期刊：
影响因子：
--
通讯作者：
Hamvas, Aaron
中科院分区：
文献类型：
--
作者：
Loren, David J;Campos, Yvan;Hamvas, Aaron
唾液酸沉积症是一种以唾液酸化低聚糖在组织、血液和尿液中蓄积为特征的溶酶体贮积病，由溶酶体α-神经氨酸酶（NEU 1）基因突变引起。唾液酸中毒的发病年龄和症状的严重程度有很大的差异。我们在这里报告一例唾液酸中毒由于新的突变neu 1提出了严重的非免疫性水肿胎儿。
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 alpha-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.