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2013 | 1 |
2016 | 1 |
2018 | 1 |
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Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types.
Hum Mol Genet. 2018 Oct 1;27(19):3392-3403. doi: 10.1093/hmg/ddy248.
Hum Mol Genet. 2018.
PMID: 29982630
Free PMC article.
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.
Lukas J, Giese AK, Markoff A, Grittner U, Kolodny E, Mascher H, Lackner KJ, Meyer W, Wree P, Saviouk V, Rolfs A.
Lukas J, et al.
PLoS Genet. 2013;9(8):e1003632. doi: 10.1371/journal.pgen.1003632. Epub 2013 Aug 1.
PLoS Genet. 2013.
PMID: 23935525
Free PMC article.
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Case report of a 45-year old female Fabry disease patient carrying two alpha-galactosidase A gene mutation alleles.
Oder D, Vergho D, Ertl G, Wanner C, Nordbeck P.
Oder D, et al.
BMC Med Genet. 2016 Jul 19;17(1):46. doi: 10.1186/s12881-016-0309-z.
BMC Med Genet. 2016.
PMID: 27431810
Free PMC article.
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