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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Renlund, M, Kovanen, P T, Raivio, K O, Aula, P, Gahmberg, C G, Ehnholm, C
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1986
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC423384/
https://ncbi.nlm.nih.gov/pubmed/3944269
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