Article
Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero.
Journal of medical genetics - 1 Nov 2005
Froissart R, Cheillan D, Bouvier R, Tourret S, Bonnet V, Piraud M, Maire I
Abstract excerpt
BACKGROUND: Sialic acid storage diseases (SASDs) are caused by the defective transport of free sialic acid outside the lysosome. Apart from the Salla presentation in Finland, SASD is a very rare form of lysosomal storage disease (LSD) with approximately 35 cases, all diagnosed after birth, having been reported worldwide. We report a series of 12 French patients with very early manifestations, including eight...
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