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Article

Clinical spectrum of infantile free sialic acid storage disease

19 Feb 1999

Abstract excerpt

Infantile free sialic acid storage disease (ISSD) is a rare autosomal recessive metabolic disorder caused by a lysosomal membrane transport defect, resulting in accumulation of free sialic acid within lysosomes. Only a few cases have been described. We report on three new cases of ISSD with different modes of presentation: an infant with nephrotic syndrome, a case of fetal and neonatal ascites with heart failure,...

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PMID: 10069709
DOI: 10.1002/(sici)1096-8628(19990219)82:5<385::aid-ajmg6>3.0.co;2-3

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