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Glycosphingolipid storage in Fabry mice extends beyond globotriaosylceramide and is affected by ABCB1 depletion
AIM: Fabry disease is caused by α-galactosidase A deficiency leading to accumulation of globotriaosylceramide (Gb(3)) in tissues. Clinical manifestations do not appear to correlate with total Gb(3) levels. Studies examining tissue distribution of specific acyl chain species of Gb(3) and upstream gly...
Autores principales: | Kamani, Mustafa A, Provençal, Philippe, Boutin, Michel, Pacienza, Natalia, Fan, Xin, Novak, Anton, Huang, Tonny C, Binnington, Beth, Au, Bryan C, Auray-Blais, Christiane, Lingwood, Clifford A, Medin, Jeffrey A |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Future Science Ltd
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5242178/ https://www.ncbi.nlm.nih.gov/pubmed/28116130 http://dx.doi.org/10.4155/fsoa-2016-0027 |
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