TY - JOUR
T1 - A severe infantile sialidosis
T2 - Clinical, biochemical, and microscopic features
AU - Aylsworth, Arthur S.
AU - Thomas, George H.
AU - Hood, Jerry L.
AU - Malouf, Nadia
AU - Libert, Jacques
N1 - Funding Information:
From the Departments of Pediatrics and Pathology, University of North Carolina," The John F Kennedy Institute and the Departments of Pediatrics & Medicine, The Johns Hopkins University," and Department of Ophthalmology, Hopital St. Pierre, Universite Libre de Bruxelles. Supported by N1H grant HD-10981 and by grant 6200505from the North Carolina Department of Human Resources. *Reprint address: Department of Pediatrics, 509 Clinical Sciences Bldg., UNC School of Medicine, Chapel Hill NC 27514.
PY - 1980/4
Y1 - 1980/4
N2 - 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.
AB - 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.
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U2 - 10.1016/S0022-3476(80)80734-7
DO - 10.1016/S0022-3476(80)80734-7
M3 - Article
C2 - 7359270
AN - SCOPUS:0018854203
SN - 0022-3476
VL - 96
SP - 662
EP - 668
JO - The Journal of pediatrics
JF - The Journal of pediatrics
IS - 4
ER -