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Infantile sialic acid storage disease and protein-losing gastroenteropathy

✍ Scribed by Lieselotte Kirchner; Susanne Kircher; Ulrike Salzer-Muhar; Eduard Paschke; Robert Birnbacher; Sylvia Stöckler-Ipsiroglu


Book ID
117591185
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
96 KB
Volume
28
Category
Article
ISSN
0887-8994

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Clinical spectrum of infantile free sial
✍ 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