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Free sialic acid storage disease without sialuria

✍ Scribed by Fanny Mochel; Bingzhi Yang; Julie Barritault; Jerry N. Thompson; Udo F. H. Engelke; Nathan H. McNeill; William S. Benko; Christine R. Kaneski; David R. Adams; Maria Tsokos; Mones Abu-Asab; Marjan Huizing; Francois Seguin; Ron A. Wevers; Jiahuan Ding; Frans W. Verheijen; Raphael Schiffmann

Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
101 KB
Volume
65
Category
Article
ISSN
0364-5134

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πŸ“œ SIMILAR VOLUMES

Clinical spectrum of infantile free sial
Clinical spectrum of infantile free sialic acid storage disease
✍ Lemyre, Emmanuelle; Russo, Pierre; MelanοΏ½on, Serge B.; GagnοΏ½, R.; Potier, Michel πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 132 KB πŸ‘ 2 views

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