Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma

Recent data have shown that lyso-Gb(3), the deacylated derivative of globotriaosylceramide (Gb(3)), is possibly involved in the pathogenesis of Fabry disease (FD) and might be a clinically useful biomarker of its metabolic load. To test this hypothesis, we assayed Gb(3) and lyso-Gb(3) and related an...

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Detaylı Bibliyografya
Yayımlandı:Clin Chim Acta
Asıl Yazarlar: Ferreira, Susana, Auray-Blais, Christiane, Boutin, Michel, Lavoie, Pamela, Nunes, José Pedro, Martins, Elisabete, Garman, Scott, Oliveira, João Paulo
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2015
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4793778/
https://ncbi.nlm.nih.gov/pubmed/26070511
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cca.2015.06.003
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