Globotriaosylsphingosine (Lyso-Gb3) as a biomarker for cardiac variant (N215S) Fabry disease
Author:
Funder
PSMMC-Riyadh-Saudi Arabia
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/article/10.1007/s10545-017-0127-2/fulltext.html
Reference36 articles.
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2. Arends M, Linthorst GE, Hollak CE, Biegstraaten M (2016) Discontinuation of enzyme replacement therapy in Fabry disease in the Dutch cohort. Mol Genet Metab 117(2):194–198. https://doi.org/10.1016/j.ymgme.2015.11.014
3. Auray-Blais C, Blais C-M, Ramaswami U, Boutin M, Germain DP, Dyack S, Bodamer O et al (2015) Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry. Clin Chim Acta 438(January):195–204. https://doi.org/10.1016/j.cca.2014.08.002
4. Auray-Blais C, Lavoie P, Boutin M, Ntwari A, Hsu T-R, Huang C-K, Niu D-M (2017) Biomarkers associated with clinical manifestations in Fabry disease patients with a late-onset cardiac variant mutation. Clin Chim Acta Int J Clin Chem 466:185–193. https://doi.org/10.1016/j.cca.2017.01.018
5. Beck M, Hughes D, Kampmann C, Larroque S, Mehta A, Pintos-Morell G, Ramaswami U, West M, Wijatyk A, Giugliani R (2015) Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: a Fabry outcome survey analysis. Mol Genet Metab 114(2):S19–S20. https://doi.org/10.1016/j.ymgme.2014.12.025
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