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

David J. Loren, Yvan Campos, Alessandra d'Azzo, Lance Wyble, Dorothy K. Grange, Enid Gilbert-Barness, Frances V. White, Aaron Hamvas

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)491-494
Number of pages4
JournalJournal of Perinatology
Volume25
Issue number7
DOIs
StatePublished - Jul 2005

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