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Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients.
Young-Gqamana B, Brignol N, Chang HH, Khanna R, Soska R, Fuller M, Sitaraman SA, Germain DP, Giugliani R, Hughes DA, Mehta A, Nicholls K, Boudes P, Lockhart DJ, Valenzano KJ, Benjamin ER. Young-Gqamana B, et al. Among authors: fuller m. PLoS One. 2013;8(3):e57631. doi: 10.1371/journal.pone.0057631. Epub 2013 Mar 5. PLoS One. 2013. PMID: 23472096 Free PMC article.
Risk of death in heart disease is associated with elevated urinary globotriaosylceramide.
Schiffmann R, Forni S, Swift C, Brignol N, Wu X, Lockhart DJ, Blankenship D, Wang X, Grayburn PA, Taylor MR, Lowes BD, Fuller M, Benjamin ER, Sweetman L. Schiffmann R, et al. Among authors: fuller m. J Am Heart Assoc. 2014 Feb 4;3(1):e000394. doi: 10.1161/JAHA.113.000394. J Am Heart Assoc. 2014. PMID: 24496231 Free PMC article.
Is it Fabry disease?
Schiffmann R, Fuller M, Clarke LA, Aerts JM. Schiffmann R, et al. Among authors: fuller m. Genet Med. 2016 Dec;18(12):1181-1185. doi: 10.1038/gim.2016.55. Epub 2016 May 19. Genet Med. 2016. PMID: 27195818 Free article. Review.
GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals.
Ter Huurne M, Parker BL, Liu NQ, Qian EL, Vivien C, Karavendzas K, Mills RJ, Saville JT, Abu-Bonsrah D, Wise AF, Hudson JE, Talbot AS, Finn PF, Martini PGV, Fuller M, Ricardo SD, Watt KI, Nicholls KM, Porrello ER, Elliott DA. Ter Huurne M, et al. Among authors: fuller m. Am J Hum Genet. 2023 Sep 7;110(9):1600-1605. doi: 10.1016/j.ajhg.2023.07.013. Epub 2023 Aug 21. Am J Hum Genet. 2023. PMID: 37607539 Free PMC article.
Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis.
Herbst ZM, Hong X, Urdaneta L, Klein T, Waggoner C, Liao HC, Kubaski F, Giugliani R, Fuller M, Gelb MH. Herbst ZM, et al. Among authors: fuller m. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107632. doi: 10.1016/j.ymgme.2023.107632. Epub 2023 Jun 24. Mol Genet Metab. 2023. PMID: 37407323 Free PMC article.
1,090 results