A severe infantile sialidosis: Clinical, biochemical, and microscopic features

Arthur S. Aylsworth, George H. Thomas, Jerry L. Hood, Nadia Malouf, Jacques Libert

Research output: Contribution to journalArticle

Abstract

An infant boy is described whose clinical findings include congenital ascites, hepatosplenomegaly, postnatal growth failure, dysostosis multiplex, delayed development, pericardial effusion, and the nephrotic syndrome. Death occurred before he reached 2 years of age. Evidence indicates that these abnormalities resulted from an autosomal recessive inherited deficiency of neuraminidase.

Original languageEnglish (US)
Pages (from-to)662-668
Number of pages7
JournalThe Journal of pediatrics
Volume96
Issue number4
DOIs
StatePublished - Apr 1980

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Aylsworth, A. S., Thomas, G. H., Hood, J. L., Malouf, N., & Libert, J. (1980). A severe infantile sialidosis: Clinical, biochemical, and microscopic features. The Journal of pediatrics, 96(4), 662-668. https://doi.org/10.1016/S0022-3476(80)80734-7