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Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population.
Dobrovolny R, Dvorakova L, Ledvinova J, Magage S, Bultas J, Lubanda JC, Elleder M, Karetova D, Pavlikova M, Hrebicek M. Dobrovolny R, et al. Among authors: hrebicek m. J Mol Med (Berl). 2005 Aug;83(8):647-54. doi: 10.1007/s00109-005-0656-2. Epub 2005 Apr 2. J Mol Med (Berl). 2005. PMID: 15806320
Natural history of the respiratory involvement in Anderson-Fabry disease.
Magage S, Lubanda JC, Susa Z, Bultas J, Karetová D, Dobrovolný R, Hrebícek M, Germain DP, Linhart A. Magage S, et al. Among authors: hrebicek m. J Inherit Metab Dis. 2007 Oct;30(5):790-9. doi: 10.1007/s10545-007-0616-9. Epub 2007 Jul 9. J Inherit Metab Dis. 2007. PMID: 17619837
Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations.
Kuchar L, Ledvinová J, Hrebícek M, Mysková H, Dvoráková L, Berná L, Chrastina P, Asfaw B, Elleder M, Petermöller M, Mayrhofer H, Staudt M, Krägeloh-Mann I, Paton BC, Harzer K. Kuchar L, et al. Among authors: hrebicek m. Am J Med Genet A. 2009 Feb 15;149A(4):613-21. doi: 10.1002/ajmg.a.32712. Am J Med Genet A. 2009. PMID: 19267410 Free PMC article.
X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female.
Řeboun M, Rybová J, Dobrovolný R, Včelák J, Veselková T, Štorkánová G, Mušálková D, Hřebíček M, Ledvinová J, Magner M, Zeman J, Pešková K, Dvořáková L. Řeboun M, et al. Among authors: hrebicek m. Folia Biol (Praha). 2016;62(2):82-9. doi: 10.14712/fb2016062020082. Folia Biol (Praha). 2016. PMID: 27187040 Free article.
66 results