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
JournalJournal of Pediatrics
Volume96
Issue number4
DOIs
StatePublished - 1980

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Mucolipidoses
Dysostoses
Pericardial Effusion
Nephrotic Syndrome
Ascites
Growth
Neuraminidase 1 deficiency

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

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

A severe infantile sialidosis : Clinical, biochemical, and microscopic features. / Aylsworth, Arthur S.; Thomas, George H.; Hood, Jerry L.; Malouf, Nadia; Libert, Jacques.

In: Journal of Pediatrics, Vol. 96, No. 4, 1980, p. 662-668.

Research output: Contribution to journalArticle

Aylsworth, AS, Thomas, GH, Hood, JL, Malouf, N & Libert, J 1980, 'A severe infantile sialidosis: Clinical, biochemical, and microscopic features', Journal of Pediatrics, vol. 96, no. 4, pp. 662-668. https://doi.org/10.1016/S0022-3476(80)80734-7
Aylsworth, Arthur S. ; Thomas, George H. ; Hood, Jerry L. ; Malouf, Nadia ; Libert, Jacques. / A severe infantile sialidosis : Clinical, biochemical, and microscopic features. In: Journal of Pediatrics. 1980 ; Vol. 96, No. 4. pp. 662-668.
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