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Phenotypic spectrum of Salla disease, a free sialic acid storage disorder

✍ Scribed by Tarja T. Varho; Liisa E. Alajoki; Kristiina M. Posti; Tapio T. Korhonen; Martin G. Renlund; Samuel R.G. Nyman; Matti L. Sillanpää; Pertti P. Aula

Book ID
117591029
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
161 KB
Volume
26
Category
Article
ISSN
0887-8994

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📜 SIMILAR VOLUMES

Clinical spectrum of infantile free sial
Clinical spectrum of infantile free sialic acid storage disease
✍ Lemyre, Emmanuelle; Russo, Pierre; Melan�on, Serge B.; Gagn�, R.; Potier, Michel 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 132 KB 👁 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