Search Results - "Aula, Pertti P."

Phenotypic spectrum of Salla disease, a free sialic acid storage disorder by Varho, Tarja T., Alajoki, Liisa E., Posti, Kristiina M., Korhonen, Tapio T., Renlund, Martin G., Nyman, Samuel R.G., Sillanpää, Matti L., Aula, Pertti P.

“…Salla disease (MIM 269920) represents the mildest phenotype among recessively inherited lysosomal-free sialic acid storage disorders. Although the vast…”
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Sialic acid storage diseases : a multiple lysosomal transport defect for acidic monosaccharides by MANCINI, G. M. S, BEERENS, C. E. M. T, AULA, P. P, VERHEIJEN, F. W

“…A defective efflux of free sialic acid from the lysosomal compartment has been found in the clinically heterogeneous group of sialic acid storage disorders…”
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