Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts.

Salla disease is a lysosomal storage disorder characterized by mental retardation and disturbed sialic acid metabolism. To study endogenous synthesis and breakdown of sialic acid, fibroblasts were incubated for 5 d in the presence and then in the absence of N-[3H]acetylmannosamine. Labeling of free...

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Detaylı Bibliyografya
Yayımlandı:J Clin Invest
Asıl Yazarlar: Renlund, M, Kovanen, P T, Raivio, K O, Aula, P, Gahmberg, C G, Ehnholm, C
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Society for Clinical Investigation 1986
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC423384/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3944269/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI112338
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