A severe infantile sialidosis: Clinical, biochemical, and microscopic features
作者： Arthur S. Aylsworth , George H. Thomas , Jerry L. Hood , Nadia Malouf , Jacques Libert
DOI: 10.1016/S0022-3476(80)80734-7
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摘要: 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 neuraminidase.
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