Article
Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts.
The Biochemical journal - 15 Jun 1990
Blom H J, Andersson H C, Seppala R, Tietze F, Gahl W A
Abstract excerpt
Separation by h.p.l.c. and pulsed amperometric detection were employed to measure glucuronic acid (GlcUA) and other acidic monosaccharides in fibroblasts from patients with infantile free sialic acid storage disease (ISSD) and Salla disease. These lysosomal storage disorders result from defective carrier-mediated transport of free N-acetylneuraminic acid (NeuAc) out of cellular lysosomes. Three Salla disease...
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