| Literature DB >> 7359270 |
A S Aylsworth, G H Thomas, J L Hood, N Malouf, J Libert.
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.Entities:
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Year: 1980 PMID： 7359270 DOI： 10.1016/s0022-3476(80)80734-7
Source DB: PubMed Journal: J Pediatr ISSN： 0022-3476 Impact factor: 4.406