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¦
Infantile sialic acid storage disease: Biochemical studies
β Scribed by Berra, B. ;Gornati, R. ;Rapelli, S. ;Gatti, R. ;Mancini, G. M. S. ;Ciana, G. ;Bembi, B.
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 864 KB
- Volume
- 58
- Category
- Article
- ISSN
- 0148-7299
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