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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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| Publicado no: | Clin Chim Acta |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2015
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| Assuntos: | |
| Acesso em linha: | 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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