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- W2018015083 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. 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." @default.
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- W2018015083 date "1980-04-01" @default.
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- W2018015083 title "A severe infantile sialidosis: Clinical, biochemical, and microscopic features" @default.
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- W2018015083 doi "https://doi.org/10.1016/s0022-3476(80)80734-7" @default.
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