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Fabry disease: renal sphingolipid distribution in the α-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging.
Kuchar L, Faltyskova H, Krasny L, Dobrovolny R, Hulkova H, Ledvinova J, Volny M, Strohalm M, Lemr K, Kryspinova L, Asfaw B, Rybová J, Desnick RJ, Havlicek V. Kuchar L, et al. Among authors: hulkova h. Anal Bioanal Chem. 2015 Mar;407(8):2283-91. doi: 10.1007/s00216-014-8402-7. Epub 2014 Dec 27. Anal Bioanal Chem. 2015. PMID: 25542581
A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation.
Hulková H, Cervenková M, Ledvinová J, Tochácková M, Hrebícek M, Poupetová H, Befekadu A, Berná L, Paton BC, Harzer K, Böör A, Smíd F, Elleder M. Hulková H, et al. Hum Mol Genet. 2001 Apr 15;10(9):927-40. doi: 10.1093/hmg/10.9.927. Hum Mol Genet. 2001. PMID: 11309366
Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients.
Keslová-Veselíková J, Hůlková H, Dobrovolný R, Asfaw B, Poupetová H, Berná L, Sikora J, Golán L, Ledvinová J, Elleder M. Keslová-Veselíková J, et al. Among authors: hulkova h. Virchows Arch. 2008 Jun;452(6):651-65. doi: 10.1007/s00428-008-0586-9. Epub 2008 Mar 20. Virchows Arch. 2008. PMID: 18351385 Free PMC article.
63 results