Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A female infant presenting congenital ascites, hepatosplenomegaly, coarse face, and delayed mental and physical development is described. Oligosaccharides in the urine and the abdominal ascites of this patient were investigated by Bio-Gel column chromatography. The level of urinary oligosaccharides excreted (nmol/mg creatinine) by the patient was 25.8 times the levels of the controls. The oligosaccharides in the urine and the ascites were composed almost entirely of sialyl oligosaccharides. The structures of urinary oligosaccharides were the same as those of oligosaccharides in the ascites. The ratio of high molecular weight sialyl oligosaccharides with repeating structures to low molecular weight sialyl oligosaccharides was higher in the ascites than in the urine.
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PMID:Severe infantile sialidosis--the characteristics of oligosaccharides isolated from the urine and the abdominal ascites. 150 87