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Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero

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 be...

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Detalhes bibliográficos
Main Authors: Froissart, R, Cheillan, D, Bouvier, R, Tourret, S, Bonnet, V, Piraud, M, Maire, I
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2005
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735939/
https://ncbi.nlm.nih.gov/pubmed/15805149
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.029744
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