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
β¦ LIBER β¦
Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity
β Scribed by Robert Kleta; Richard P Morse; Eduard Orvisky; Donna Krasnewich; Joseph Alroy; Angelo A Ucci; Isa Bernardini; David A Wenger; William A Gahl
- Book ID
- 116987493
- Publisher
- Elsevier Science
- Year
- 2004
- Tongue
- English
- Weight
- 580 KB
- Volume
- 82
- Category
- Article
- ISSN
- 1096-7192
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