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: Svaton, Michael, Skvarova Kramarzova, Karolina, Kanderova, Veronika, Mancikova, Andrea, Smisek, Petr, Jesina, Pavel, Krijt, Jakub, Stiburkova, Blanka, Dobrovolny, Robert, Sokolova, Jitka, Bakardjieva-Mihaylova, Violeta, Vodickova, Elena, Rackova, Marketa, Stuchly, Jan, Kalina, Tomas, Stary, Jan, Trka, Jan, Fronkova, Eva, Kozich, Viktor

المصدر: Blood

مصطلحات موضوعية: Letter to Blood

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::d471973e334b7e01dbd636d5a8d487c6
https://europepmc.org/articles/PMC7330012/

المؤلفون: Wozniak, Marcella A., Kittner, Steven J., Tuhrim, Stanley, Cole, John W., Stern, Barney, Dobbins, Mark, Grace, Marie E., Nazarenko, Irina, Dobrovolny, Robert, McDade, Eric, Desnick, Robert J.

المصدر: Stroke ; volume 41, issue 1, page 78-81 ; ISSN 0039-2499 1524-4628

الاتاحة: https://doi.org/10.1161/strokeaha.109.558320
https://www.ahajournals.org/doi/full/10.1161/STROKEAHA.109.558320

المؤلفون: Keslová-Veselíková, Jana, Hůlková, Helena, Dobrovolný, Robert, Asfaw, Befekadu, Poupětová, Helena, Berná, Linda, Sikora, Jakub, Goláň, Lubor, Ledvinová, Jana, Elleder, Milan

المصدر: Virchows Archiv ; volume 452, issue 6, page 651-665 ; ISSN 0945-6317 1432-2307

الاتاحة: http://dx.doi.org/10.1007/s00428-008-0586-9
https://link.springer.com/content/pdf/10.1007/s00428-008-0586-9.pdf
https://link.springer.com/article/10.1007/s00428-008-0586-9/fulltext.html
http://link.springer.com/content/pdf/10.1007/s00428-008-0586-9.pdf

المؤلفون: Merta, Miroslav, Reiterova, Jana, Ledvinova, Jana, Poupetová, Helena, Dobrovolny, Robert, Rysavá, Romana, Maixnerová, Dita, Bultas, Jan, Motán, Jirí, Slivkova, Jitka, Sobotova, Doris, Smrzova, Jana, Tesar, Vladimir

مصطلحات موضوعية: Original Articles: Dialysis and Transplantation

وصف الملف: text/html

Relation: http://ndt.oxfordjournals.org/cgi/content/short/22/1/179; http://dx.doi.org/10.1093/ndt/gfl528

الاتاحة: http://ndt.oxfordjournals.org/cgi/content/short/22/1/179
https://doi.org/10.1093/ndt/gfl528

المؤلفون: Kostrouchová Marta, Ledvinová Jana, Poupětová Helena, Dobrovolný Robert, Sikora Jakub, Hujová Jana, Hřebíček Martin

المصدر: BMC Cell Biology, Vol 6, Iss 1, p 5 (2005)

مصطلحات موضوعية: Cytology, QH573-671

Relation: http://www.biomedcentral.com/1471-2121/6/5; https://doaj.org/toc/1471-2121; https://doaj.org/article/2a735957f14e4cb2893c45997859b137

الاتاحة: https://doi.org/10.1186/1471-2121-6-5
https://doaj.org/article/2a735957f14e4cb2893c45997859b137

المؤلفون: Hujová, Jana, Sikora, Jakub, Dobrovolný, Robert, Poupětová, Helena, Ledvinová, Jana, Kostrouchová, Marta, Hřebíček, Martin

Relation: http://www.biomedcentral.com/1471-2121/6/5

الاتاحة: http://www.biomedcentral.com/1471-2121/6/5

المؤلفون: Asfaw, Befekadu, Ledvinová, Jana, Dobrovolńy, Robert, Bakker, Henk D., Desnick, Robert J., van Diggelen, Otto P., de Jong, Jan G.N., Kanzaki, Tamotsu, Chabas, Amparo, Maire, Irene, Conzelmann, Ernst, Schindler, Detlev

المصدر: Journal of Lipid Research ; volume 43, issue 7, page 1096-1104 ; ISSN 0022-2275

الاتاحة: http://dx.doi.org/10.1194/jlr.m100423-jlr200
https://api.elsevier.com/content/article/PII:S0022227520314723?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022227520314723?httpAccept=text/plain
https://syndication.highwire.org/content/doi/10.1194/jlr.M100423-JLR200

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: Svaton, Michael, Skvarova Kramarzova, Karolina, Kanderova, Veronika, Mancikova, Andrea, Smisek, Petr, Jesina, Pavel, Krijt, Jakub, Stiburkova, Blanka, Dobrovolny, Robert, Sokolova, Jitka, Bakardjieva-Mihaylova, Violeta, Vodickova, Elena, Rackova, Marketa, Stuchly, Jan, Kalina, Tomas, Stary, Jan, Trka, Jan, Fronkova, Eva, Kozich, Viktor

المصدر: Blood; June 2020, Vol. 135 Issue: 26 p2427-2431, 5p

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: Feldt-Rasmussen, Ulla, Dobrovolny, Robert, Nazarenko, Irina, Ballegaard, Martin, Hasholt, Lis, Rasmussen, Ase K, Christensen, Erik Ilsø, Sorensen, Soren S, Wibrand, Flemming, Desnick, Robert J

المصدر: Feldt-Rasmussen , U , Dobrovolny , R , Nazarenko , I , Ballegaard , M , Hasholt , L , Rasmussen , A K , Christensen , E I , Sorensen , S S , Wibrand , F & Desnick , R J 2011 , ' Diagnostic dilemma: A young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" α-galactosidase A large deletion ' , Molecular Genetics and Metabolism , vol. 104 , pp. 314-318 . https://doi.org/10.1016/j.ymgme.2011.05.008

الاتاحة: https://pure.au.dk/portal/da/publications/diagnostic-dilemma-a-young-woman-with-fabry-disease-symptoms-no-family-history-and-a-sequencing-cryptic-galactosidase-a-large-deletion(7e82f835-1cfe-4967-84ea-efca26296efa).html
https://doi.org/10.1016/j.ymgme.2011.05.008

المؤلفون: Dobrovolny, Robert, Liskova, Petra, Ledvinova, Jana, Poupetova, Helena, Asfaw, Befekadu, Filipec, Martin, Jirsova, Katerina, Kraus, Josef, Elleder, Milan

المصدر: American Journal of Ophthalmology ; volume 143, issue 4, page 663-671.e2 ; ISSN 0002-9394

الاتاحة: http://dx.doi.org/10.1016/j.ajo.2006.11.049
https://api.elsevier.com/content/article/PII:S0002939406013687?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002939406013687?httpAccept=text/plain

المؤلفون: Dobrovolný, Robert, Dvořáková, Lenka, Ledvinová, Jana, Magage, Sudheera, Bultas, Jan, Lubanda, Jean C., Poupětová, Helena, Elleder, Milan, Karetová, Debora, Hřebíček, Martin

المساهمون: IGA MZ čR

المصدر: American Journal of Medical Genetics Part A ; volume 134A, issue 1, page 84-87 ; ISSN 1552-4825

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.30533
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.30533
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.30533/fullpdf

المؤلفون: Dobrovolny, Robert, Dvorakova, Lenka, Ledvinova, Jana, Magage, Sudheera, Bultas, Jan, Lubanda, Jean C., Elleder, Milan, Karetova, Debora, Pavlikova, Marketa, Hrebicek, Martin

المصدر: Journal of Molecular Medicine ; volume 83, issue 8, page 647-654 ; ISSN 0946-2716 1432-1440

الاتاحة: http://dx.doi.org/10.1007/s00109-005-0656-2
http://link.springer.com/content/pdf/10.1007/s00109-005-0656-2.pdf
http://link.springer.com/article/10.1007/s00109-005-0656-2/fulltext.html
http://link.springer.com/content/pdf/10.1007/s00109-005-0656-2

المؤلفون: Feldt-Rasmussen, Ulla, Dobrovolny, Robert, Nazarenko, Irina, Ballegaard, Martin, Hasholt, Lis, Rasmussen, Ase K, Christensen, Erik Ilsø, Sorensen, Soren S, Wibrand, Flemming, Desnick, Robert J

المصدر: Feldt-Rasmussen , U , Dobrovolny , R , Nazarenko , I , Ballegaard , M , Hasholt , L , Rasmussen , A K , Christensen , E I , Sorensen , S S , Wibrand , F & Desnick , R J 2011 , ' Diagnostic dilemma : a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" a-galactosidase a large deletion ' , Molecular Genetics and Metabolism , vol. 104 , no. 3 , pp. 314-8 .

مصطلحات الفهرس: Adolescent, Biopsy, Enzyme Replacement Therapy, Fabry Disease, Female, Gene Components, Gene Dosage, Heterozygote Detection, Humans, Kidney, Polymerase Chain Reaction, Sequence Analysis, DNA, Sequence Deletion, alpha-Galactosidase, article

URL: https://curis.ku.dk/portal/da/publications/diagnostic-dilemma(2db825c0-ba8c-4db6-8657-8ea6bf3c53c5).html
https://doi.org/10.1016/j.ymgme.2011.05.008

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

المؤلفون: Dobrovolny, Robert, Nazarenko, Irina, Kim, Jungmin, Doheny, Dana, Desnick, Robert J.

المصدر: Human Mutation; Jun2011, Vol. 32 Issue 6, p688-695, 8p

المؤلفون: Wozniak MA, Kittner SJ, Tuhrim S, Cole JW, Stern B, Dobbins M, Grace ME, Nazarenko I, Dobrovolny R, McDade E, Desnick RJ, Wozniak, Marcella A, Kittner, Steven J, Tuhrim, Stanley, Cole, John W, Stern, Barney, Dobbins, Mark, Grace, Marie E, Nazarenko, Irina, Dobrovolny, Robert

المصدر: Stroke (00392499); Jan2010, Vol. 41 Issue 1, p78-81, 4p

المؤلفون: Hwu, Wuh-Liang, Chien, Yin-Hsiu, Lee, Ni-Chung, Chiang, Shu-Chuan, Dobrovolny, Robert, Huang, Ai-Chu, Yeh, Hui-Ying, Chao, May-Chin, Lin, Shio-Jean, Kitagawa, Teruo, Desnick, Robert J., Hsu, Li-Wen

المصدر: Human Mutation; Oct2009, Vol. 30 Issue 10, p1397-1405, 9p