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Infantile type of sialic acid storage disease with sialuria

✍ Scribed by E. Paschke; G. Trinkl; W. Erwa; M. Pavelka; I. Mutz; A. Roscher

Book ID
115089335
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
587 KB
Volume
29
Category
Article
ISSN
0009-9163

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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 differen