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492 results

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Page 1
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.
Pavlů-Pereira H, Asfaw B, Poupctová H, Ledvinová J, Sikora J, Vanier MT, Sandhoff K, Zeman J, Novotná Z, Chudoba D, Elleder M. Pavlů-Pereira H, et al. Among authors: sikora j. J Inherit Metab Dis. 2005;28(2):203-27. doi: 10.1007/s10545-005-5671-5. J Inherit Metab Dis. 2005. PMID: 15877209
Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome.
Vylet'al P, Kublová M, Kalbácová M, Hodanová K, Baresová V, Stibůrková B, Sikora J, Hůlková H, Zivný J, Majewski J, Simmonds A, Fryns JP, Venkat-Raman G, Elleder M, Kmoch S. Vylet'al P, et al. Among authors: sikora j. Kidney Int. 2006 Sep;70(6):1155-69. doi: 10.1038/sj.ki.5001728. Epub 2006 Aug 2. Kidney Int. 2006. PMID: 16883323 Free article.
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: sikora j. 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.
Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.
Zivná M, Hůlková H, Matignon M, Hodanová K, Vylet'al P, Kalbácová M, Baresová V, Sikora J, Blazková H, Zivný J, Ivánek R, Stránecký V, Sovová J, Claes K, Lerut E, Fryns JP, Hart PS, Hart TC, Adams JN, Pawtowski A, Clemessy M, Gasc JM, Gübler MC, Antignac C, Elleder M, Kapp K, Grimbert P, Bleyer AJ, Kmoch S. Zivná M, et al. Among authors: sikora j. Am J Hum Genet. 2009 Aug;85(2):204-13. doi: 10.1016/j.ajhg.2009.07.010. Epub 2009 Aug 6. Am J Hum Genet. 2009. PMID: 19664745 Free PMC article.
A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment.
Maclean KN, Sikora J, Kožich V, Jiang H, Greiner LS, Kraus E, Krijt J, Overdier KH, Collard R, Brodsky GL, Meltesen L, Crnic LS, Allen RH, Stabler SP, Elleder M, Rozen R, Patterson D, Kraus JP. Maclean KN, et al. Among authors: sikora j. Mol Genet Metab. 2010 Oct-Nov;101(2-3):153-62. doi: 10.1016/j.ymgme.2010.06.010. Epub 2010 Jun 23. Mol Genet Metab. 2010. PMID: 20638879 Free PMC article.
Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment.
Maclean KN, Sikora J, Kožich V, Jiang H, Greiner LS, Kraus E, Krijt J, Crnic LS, Allen RH, Stabler SP, Elleder M, Kraus JP. Maclean KN, et al. Among authors: sikora j. Mol Genet Metab. 2010 Oct-Nov;101(2-3):163-71. doi: 10.1016/j.ymgme.2010.06.007. Epub 2010 Jun 22. Mol Genet Metab. 2010. PMID: 20638882 Free PMC article.
492 results