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Pediatric Neurology
Volume 28, Issue 4
, Pages 313-317
, April 2003
Infantile sialic acid storage disease and protein-losing gastroenteropathy
References
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Lysosomal transport disorders (Cystinosis and sialic acid storage disorders).
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Circumscribed intestinal protein loss with deficiency in CD4+ lymphocytes after the Fontan procedure.
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Accumulation of sialic acid in endocytic compartments interferes with the formation of mature lysosomes.
Impaired proteolytic processing of cathepsin B in fibroblasts with lysosomal silaic acid storage disease. J Biol Chem. 1999;274:19063–19071
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Articular chondrocytes from animals with a dermatan sulate storage disease undergo a high rate of apoptosis and release nitric oxide and inflammatory cytokines (A possible mechanism underlying degenerative joint disease in the mucopolysaccharidoses).
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- . Sialic acid uptake by fibroblasts. Biochemistry. 1976;15:3591–3599
- . Metabolic processing of gangliosides by normal and Salla human fibroblasts in culture. A study performed by administering radioactive GM3 Ganglioside. J Biol Chem. 1996;271:21738–21744
PII: S0887-8994(02)00629-X
doi: 10.1016/S0887-8994(02)00629-X
© 2003 Elsevier Science Inc. All rights reserved.
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Pediatric Neurology
Volume 28, Issue 4
, Pages 313-317
, April 2003
