Lymphocytic vacuolization in sialic acid storage disease
✍ Scribed by Barıs Kuskonmaz; Sule Unal; Emine Cördükcü; Halil Aydin; Turgay Coskun; Aytemiz Gurgey; Fatma Gumruk
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 69 KB
- Volume
- 83
- Category
- Article
- ISSN
- 0361-8609
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📜 SIMILAR VOLUMES
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
Sialic acids, hydrolyzed from human lymphocytes, were determined, in the nanomole range, with a modified form of the periodic acid-thiobarbituric acid assay and liquid chromatography. The l.c. separations were carried out with two different systems, firstly an Aminex HPX-72 S anion-exchange resin an