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Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase.
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.
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