Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15.

Lignende værker

• 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.
  af: Renlund, M, et al.
  Udgivet: (1986)
• The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.
  af: Haataja, L., et al.
  Udgivet: (1994)
• Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides.
  af: Mancini, G M, et al.
  Udgivet: (1991)
• Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease.
  af: Schleutker, J, et al.
  Udgivet: (1996)
• The Spectrum of SLC17A5-Gene Mutations Resulting in Free Sialic Acid–Storage Diseases Indicates Some Genotype-Phenotype Correlation
  af: Aula, Nina, et al.
  Udgivet: (2000)