المؤلفون: Rybová, Jitka

Thesis Advisors: Ledvinová, Jana, Entlicher, Gustav, Živný, Jan

مصطلحات موضوعية: mukololysacharidosa typu II, neurální buňky, mucopolysaccharidosis type II, Lysosomální střádavá onemocnění, induced pluripotent stem cells, neural cells, Lysosomal storage disorders, X chromosome inactivation, inaktivace X chromosomu, indukované pluripotentní kmenové buňky, diferenciace, Fabry disease, differentiation, glycosphingolipids, glykosfingolipidy, Fabryho choroba

الاتاحة: http://www.nusl.cz/ntk/nusl-388707

المؤلفون: Kleynerman, Annie, Rybova, Jitka, McKillop, William M, Dlugi, Theresa A, Faber, Mary L, Fuller, Maria, O'Meara, Caitlin C, Medin, Jeffrey A

المصدر: Am J Physiol Heart Circ Physiol ; ISSN:1522-1539 ; Volume:328 ; Issue:1

مصطلحات موضوعية: Farber disease, cardiac development, ceramide, lysosomal storage disorder, neonatal

Relation: https://doi.org/10.1152/ajpheart.00289.2024; https://pubmed.ncbi.nlm.nih.gov/39665198

الاتاحة: https://doi.org/10.1152/ajpheart.00289.2024
https://pubmed.ncbi.nlm.nih.gov/39665198

المؤلفون: Nagree, Murtaza S., Rybova, Jitka, Kleynerman, Annie, Ahrenhoerster, Carissa J., Saville, Jennifer T., Xu, TianMeng, Bachochin, Maxwell, McKillop, William M., Lawlor, Michael W., Pshezhetsky, Alexey V., Isaeva, Olena, Budde, Matthew D., Fuller, Maria, Medin, Jeffrey A.

المصدر: Communications Biology ; volume 6, issue 1 ; ISSN 2399-3642

الاتاحة: http://dx.doi.org/10.1038/s42003-023-04932-w
https://www.nature.com/articles/s42003-023-04932-w.pdf
https://www.nature.com/articles/s42003-023-04932-w

المؤلفون: Rybová, Jitka

Thesis Advisors: Hudeček, Jiří, Šmíd, František

مصطلحات موضوعية: saposin, globotriaosylceramide, Schindlerova choroba, Schindler disease, globotriaosylceramid

الاتاحة: http://www.nusl.cz/ntk/nusl-297558

المؤلفون: Nagree, Murtaza S, Felizardo, Tania C, Faber, Mary L, Rybova, Jitka, Rupar, C Anthony, Foley, S Ronan, Fuller, Maria, Fowler, Daniel H, Medin, Jeffrey A

المساهمون: Midwest Athletes Against Childhood Cancer

المصدر: EMBO Molecular Medicine ; volume 14, issue 4 ; ISSN 1757-4676 1757-4684

الاتاحة: http://dx.doi.org/10.15252/emmm.202114297
https://onlinelibrary.wiley.com/doi/pdf/10.15252/emmm.202114297
https://onlinelibrary.wiley.com/doi/full-xml/10.15252/emmm.202114297
https://www.embopress.org/doi/pdf/10.15252/emmm.202114297

المؤلفون: Rybova, Jitka, Kuchar, Ladislav, Sikora, Jakub, McKillop, William M., Medin, Jeffrey A.

المساهمون: Midwest Athletes Against Childhood Cancer

المصدر: Journal of Inherited Metabolic Disease ; volume 45, issue 6, page 1175-1190 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1002/jimd.12552
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12552
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/jimd.12552

المؤلفون: Dubot, Patricia, Sabourdy, Frédérique, Rybova, Jitka, Medin, Jeffrey A., Levade, Thierry

المساهمون: Institut Fédératif de Biologie (IFB), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre de Recherches en Cancérologie de Toulouse (CRCT), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 0009-8981 ; Clinica Chimica Acta ; https://hal.science/hal-03484439 ; Clinica Chimica Acta, 2019, 495, pp.457 - 466. ⟨10.1016/j.cca.2019.05.020⟩.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

Relation: hal-03484439; https://hal.science/hal-03484439; https://hal.science/hal-03484439/document; https://hal.science/hal-03484439/file/S0009898119318819.pdf; PII: S0009-8981(19)31881-9

الاتاحة: https://hal.science/hal-03484439
https://hal.science/hal-03484439/document
https://hal.science/hal-03484439/file/S0009898119318819.pdf
https://doi.org/10.1016/j.cca.2019.05.020

المؤلفون: Yu, Fabian P.S., Molino, Salvatore, Sikora, Jakub, Rasmussen, Shauna, Rybova, Jitka, Tate, Everett, Geurts, Aron M., Turner, Patricia V., Mckillop, William M., Medin, Jeffrey A.

المساهمون: Univerzita Karlova v Praze, Medical College of Wisconsin

المصدر: Laboratory Investigation ; volume 99, issue 10, page 1572-1592 ; ISSN 0023-6837

الاتاحة: http://dx.doi.org/10.1038/s41374-019-0271-4
http://www.nature.com/articles/s41374-019-0271-4.pdf
http://www.nature.com/articles/s41374-019-0271-4
https://api.elsevier.com/content/article/PII:S0023683722025843?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0023683722025843?httpAccept=text/plain

المؤلفون: Rybová, Jitka, Kuchař, Ladislav, Hůlková, Helena, Asfaw, Befekadu, Dobrovolný, Robert, Sikora, Jakub, Havlíček, Vladimír, Škultéty, Ľudovít, Ledvinová, Jana

المساهمون: Agency of Charles University, Ministry of Education, Youth, and Sports of the Czech Republic, Ministry of Health of the Czech Republic

المصدر: Glycobiology ; volume 28, issue 6, page 382-391 ; ISSN 1460-2423

الاتاحة: http://dx.doi.org/10.1093/glycob/cwy026
http://academic.oup.com/glycob/article-pdf/28/6/382/24852510/cwy026.pdf

المؤلفون: Rybová, Jitka

المساهمون: Ledvinová, Jana, Entlicher, Gustav, Živný, Jan

مصطلحات موضوعية: mukololysacharidosa typu II, neurální buňky, mucopolysaccharidosis type II, Lysosomální střádavá onemocnění, induced pluripotent stem cells, neural cells, Lysosomal storage disorders, X chromosome inactivation, inaktivace X chromosomu, indukované pluripotentní kmenové buňky, diferenciace, Fabry disease, differentiation, glycosphingolipids, glykosfingolipidy, Fabryho choroba, lipids (amino acids, peptides, and proteins)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::150e9840c9da2dd87cc05a8dcecd7a66
http://www.nusl.cz/ntk/nusl-395867

المؤلفون: Rybová, Jitka

مصطلحات موضوعية: Lysosomal storage disorders, glycosphingolipids, Fabry disease, mucopolysaccharidosis type II, induced pluripotent stem cells, differentiation, X chromosome inactivation, neural cells, Lysosomální střádavá onemocnění, glykosfingolipidy, Fabryho choroba, mukololysacharidosa typu II, indukované pluripotentní kmenové buňky, diferenciace, inaktivace X chromosomu, neurální buňky

وصف الملف: application/pdf

Relation: http://hdl.handle.net/20.500.11956/105769; 208843; 002274621; 990022746210106986

الاتاحة: https://hdl.handle.net/20.500.11956/105769

المؤلفون: Rybová, Jitka, Ledvinová, Jana, Sikora, Jakub, Kuchař, Ladislav, Dobrovolný, Robert

المساهمون: Medical Research Agency of The Czech Republic

المصدر: Journal of Inherited Metabolic Disease ; volume 41, issue 2, page 221-229 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1007/s10545-017-0108-5
http://link.springer.com/article/10.1007/s10545-017-0108-5/fulltext.html
http://link.springer.com/content/pdf/10.1007/s10545-017-0108-5.pdf
https://onlinelibrary.wiley.com/doi/pdf/10.1007/s10545-017-0108-5

المؤلفون: Kuchar, Ladislav, Faltyskova, Helena, Krasny, Lukas, Dobrovolny, Robert, Hulkova, Helena, Ledvinova, Jana, Volny, Michael, Strohalm, Martin, Lemr, Karel, Kryspinova, Lenka, Asfaw, Befekadu, Rybová, Jitka, Desnick, Robert J., Havlicek, Vladimir

المصدر: Analytical and Bioanalytical Chemistry ; volume 407, issue 8, page 2283-2291 ; ISSN 1618-2642 1618-2650

الاتاحة: http://dx.doi.org/10.1007/s00216-014-8402-7
http://link.springer.com/content/pdf/10.1007/s00216-014-8402-7.pdf
http://link.springer.com/article/10.1007/s00216-014-8402-7/fulltext.html
http://link.springer.com/content/pdf/10.1007/s00216-014-8402-7

المؤلفون: Rybová, Jitka, Ledvinová, Jana, Sikora, Jakub, Kuchař, Ladislav, Dobrovolný, Robert

المصدر: Journal of Inherited Metabolic Disease; Mar2018, Vol. 41 Issue 2, p221-229, 9p

المؤلفون: Rybová, Jitka

المساهمون: Sofrová, Danuše, Kučera, Tomáš

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2186::6f6fee58a77066f5a9bab0faa87aa8c5
http://www.nusl.cz/ntk/nusl-279789

المؤلفون: Rybová, Jitka

المساهمون: Hudeček, Jiří, Šmíd, František, Befekadu, Asfaw, Ledvinová, Jana

مصطلحات موضوعية: globotriaosylceramide, saposin, Schindler disease, globotriaosylceramid, Schindlerova choroba

وصف الملف: application/pdf

Relation: http://hdl.handle.net/20.500.11956/33082; 78303; 001366017

الاتاحة: https://hdl.handle.net/20.500.11956/33082

المؤلفون: Rybová, Jitka

المساهمون: Kučera, Tomáš, Sofrová, Danuše

وصف الملف: application/pdf

Relation: http://hdl.handle.net/20.500.11956/24910; 36982; 001165242; 990011652420106986

الاتاحة: https://hdl.handle.net/20.500.11956/24910

المؤلفون: Kuchar, Ladislav, Faltyskova, Helena, Krasny, Lukas, Dobrovolny, Robert, Hulkova, Helena, Ledvinova, Jana, Volny, Michael, Strohalm, Martin, Lemr, Karel, Kryspinova, Lenka, Asfaw, Befekadu, Rybová, Jitka, Desnick, Robert, Havlicek, Vladimir

المصدر: Analytical & Bioanalytical Chemistry; Mar2015, Vol. 407 Issue 8, p2283-2291, 9p

مصطلحات موضوعية: ANGIOKERATOMA corporis diffusum, SPHINGOLIPIDS, GALACTOSIDASES, ANIMAL models in research, LABORATORY mice