Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS

Sialic acid storage disease (SASD) is an inborn error resulting from defects in the lysosomal membrane protein sialin. The SASD phenotypical spectrum ranges from a severe presentation, infantile sialic acid storage disease (ISSD) which may present as hydrops fetalis, to a relatively mild form, Salla...

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Detalhes bibliográficos
Main Authors: van den Bosch, Jeroen, Oemardien, Linda F., Srebniak, Malgorzata I., Piraud, Monique, Huijmans, Jan G. M., Verheijen, Frans W., Ruijter, George J. G.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Netherlands 2011
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3173643/
https://ncbi.nlm.nih.gov/pubmed/21617927
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-011-9351-3
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