[PDF][PDF] A severe infantile sialidosis: clinical, biochemical, and microscopic features
AS Aylsworth, GH Thomas, JL Hood… - The Journal of …, 1980 - academia.edu
AS Aylsworth, GH Thomas, JL Hood, N Malouf, J Libert
The Journal of pediatrics, 1980•academia.eduAn infant boy is described whose clinical findings include congenital ascites,
hepatosplenomegaly, postnatal growth failure, dysostosis multiplex, delayed development,
perieardial 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.
hepatosplenomegaly, postnatal growth failure, dysostosis multiplex, delayed development,
perieardial 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, perieardial 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.
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