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Showing 1 to 4 of 4 entries
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Nationwide screening for Fabry disease in unselected stroke patients.

PloS one

Tomek A, Petra R, Paulasová Schwabová J, Olšerová A, Škorňa M, Nevšímalová M, Šimůnek L, Herzig R, Fafejtová Š, Mikulenka P, Táboříková A, Neumann J, Brzezny R, Sobolová H, Bartoník J, Václavík D, Vachová M, Bechyně K, Havlíková H, Prax T, Šaňák D, Černíková I, Ondečková I, Procházka P, Rajner J, Škoda M, Novák J, Škoda O, Bar M, Mikulík R, Dostálová G, Linhart A.
PMID: 34905550
PLoS One. 2021 Dec 14;16(12):e0260601. doi: 10.1371/journal.pone.0260601. eCollection 2021.

BACKGROUND AND AIMS: Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by disease-associated variants in the alpha-galactosidase A gene (GLA). FD is a known cause of stroke in younger patients. There are limited data on prevalence...

Cite
Tomek A, Petra R, Paulasová Schwabová J, et al. Nationwide screening for Fabry disease in unselected stroke patients. PLoS One. 2021;16(12):e0260601doi: 10.1371/journal.pone.0260601.
Tomek, A., Petra, R., Paulasová Schwabová, J., Olšerová, A., Škorňa, M., Nevšímalová, M., Šimůnek, L., Herzig, R., Fafejtová, �. �., Mikulenka, P., Táboříková, A., Neumann, J., Brzezny, R., Sobolová, H., Bartoník, J., Václavík, D., Vachová, M., Bechyně, K., Havlíková, H., Prax, T., Šaňák, D., Černíková, I., Ondečková, I., Procházka, P., Rajner, J., Škoda, M., Novák, J., Škoda, O., Bar, M., Mikulík, R., Dostálová, G., Linhart, A. (2021). Nationwide screening for Fabry disease in unselected stroke patients. PloS one, 16(12), e0260601. https://doi.org/10.1371/journal.pone.0260601
Tomek, Aleš, et al. "Nationwide screening for Fabry disease in unselected stroke patients." PloS one vol. 16,12 (2021): e0260601. doi: https://doi.org/10.1371/journal.pone.0260601
Tomek A, Petra R, Paulasová Schwabová J, Olšerová A, Škorňa M, Nevšímalová M, Šimůnek L, Herzig R, Fafejtová Š, Mikulenka P, Táboříková A, Neumann J, Brzezny R, Sobolová H, Bartoník J, Václavík D, Vachová M, Bechyně K, Havlíková H, Prax T, Šaňák D, Černíková I, Ondečková I, Procházka P, Rajner J, Škoda M, Novák J, Škoda O, Bar M, Mikulík R, Dostálová G, Linhart A. Nationwide screening for Fabry disease in unselected stroke patients. PLoS One. 2021 Dec 14;16(12):e0260601. doi: 10.1371/journal.pone.0260601. eCollection 2021. PMID: 34905550; PMCID: PMC8670679.
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Nationwide screening for Fabry disease in unselected stroke patients.

PloS one

Tomek A, Petra R, Paulasová Schwabová J, Olšerová A, Škorňa M, Nevšímalová M, Šimůnek L, Herzig R, Fafejtová Š, Mikulenka P, Táboříková A, Neumann J, Brzezny R, Sobolová H, Bartoník J, Václavík D, Vachová M, Bechyně K, Havlíková H, Prax T, Šaňák D, Černíková I, Ondečková I, Procházka P, Rajner J, Škoda M, Novák J, Škoda O, Bar M, Mikulík R, Dostálová G, Linhart A.
PMID: 34905550
PLoS One. 2021 Dec 14;16(12):e0260601. doi: 10.1371/journal.pone.0260601. eCollection 2021.

BACKGROUND AND AIMS: Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by disease-associated variants in the alpha-galactosidase A gene (GLA). FD is a known cause of stroke in younger patients. There are limited data on prevalence...

Cite
Tomek A, Petra R, Paulasová Schwabová J, et al. Nationwide screening for Fabry disease in unselected stroke patients. PLoS One. 2021;16(12):e0260601doi: 10.1371/journal.pone.0260601.
Tomek, A., Petra, R., Paulasová Schwabová, J., Olšerová, A., Škorňa, M., Nevšímalová, M., Šimůnek, L., Herzig, R., Fafejtová, �. �., Mikulenka, P., Táboříková, A., Neumann, J., Brzezny, R., Sobolová, H., Bartoník, J., Václavík, D., Vachová, M., Bechyně, K., Havlíková, H., Prax, T., Šaňák, D., Černíková, I., Ondečková, I., Procházka, P., Rajner, J., Škoda, M., Novák, J., Škoda, O., Bar, M., Mikulík, R., Dostálová, G., Linhart, A. (2021). Nationwide screening for Fabry disease in unselected stroke patients. PloS one, 16(12), e0260601. https://doi.org/10.1371/journal.pone.0260601
Tomek, Aleš, et al. "Nationwide screening for Fabry disease in unselected stroke patients." PloS one vol. 16,12 (2021): e0260601. doi: https://doi.org/10.1371/journal.pone.0260601
Tomek A, Petra R, Paulasová Schwabová J, Olšerová A, Škorňa M, Nevšímalová M, Šimůnek L, Herzig R, Fafejtová Š, Mikulenka P, Táboříková A, Neumann J, Brzezny R, Sobolová H, Bartoník J, Václavík D, Vachová M, Bechyně K, Havlíková H, Prax T, Šaňák D, Černíková I, Ondečková I, Procházka P, Rajner J, Škoda M, Novák J, Škoda O, Bar M, Mikulík R, Dostálová G, Linhart A. Nationwide screening for Fabry disease in unselected stroke patients. PLoS One. 2021 Dec 14;16(12):e0260601. doi: 10.1371/journal.pone.0260601. eCollection 2021. PMID: 34905550; PMCID: PMC8670679.
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Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic.

Journal of clinical medicine

Reková P, Dostálová G, Kemlink D, Paulasová Schwabová J, Dubská Z, Vaneckova M, Mašek M, Kodet O, Poupětová H, Mazurová S, Rajdova A, Vlckova E, Táboříková A, Fafejtová Š, Nevsimalova M, Linhart A, Tomek A.
PMID: 34441839
J Clin Med. 2021 Aug 12;10(16). doi: 10.3390/jcm10163543.

Fabry disease (FD) is a rare X-linked disorder of glycosphingolipid metabolism caused by pathogenic variants within the alpha-galactosidase A (GLA) gene, often leading to neurological manifestations including stroke. Multiple screening programs seeking GLA variants among stroke survivors lacked detailed...

Cite
Reková P, Dostálová G, Kemlink D, et al. Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic. J Clin Med. 2021;10(16)doi: 10.3390/jcm10163543.
Reková, P., Dostálová, G., Kemlink, D., Paulasová Schwabová, J., Dubská, Z., Vaneckova, M., Mašek, M., Kodet, O., Poupětová, H., Mazurová, S., Rajdova, A., Vlckova, E., Táboříková, A., Fafejtová, �. �., Nevsimalova, M., Linhart, A., & Tomek, A. (2021). Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic. Journal of clinical medicine, 10(16), . https://doi.org/10.3390/jcm10163543
Reková, Petra, et al. "Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic." Journal of clinical medicine vol. 10,16 (2021). doi: https://doi.org/10.3390/jcm10163543
Reková P, Dostálová G, Kemlink D, Paulasová Schwabová J, Dubská Z, Vaneckova M, Mašek M, Kodet O, Poupětová H, Mazurová S, Rajdova A, Vlckova E, Táboříková A, Fafejtová Š, Nevsimalova M, Linhart A, Tomek A. Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic. J Clin Med. 2021 Aug 12;10(16). doi: 10.3390/jcm10163543. PMID: 34441839; PMCID: PMC8396867.
Copy Download .nbib Format: NLM
Nationwide screening for Fabry disease in unselected stroke patients.

PloS one

Tomek A, Petra R, Paulasová Schwabová J, Olšerová A, Škorňa M, Nevšímalová M, Šimůnek L, Herzig R, Fafejtová Š, Mikulenka P, Táboříková A, Neumann J, Brzezny R, Sobolová H, Bartoník J, Václavík D, Vachová M, Bechyně K, Havlíková H, Prax T, Šaňák D, Černíková I, Ondečková I, Procházka P, Rajner J, Škoda M, Novák J, Škoda O, Bar M, Mikulík R, Dostálová G, Linhart A.
PMID: 34905550
PLoS One. 2021 Dec 14;16(12):e0260601. doi: 10.1371/journal.pone.0260601. eCollection 2021.

BACKGROUND AND AIMS: Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by disease-associated variants in the alpha-galactosidase A gene (GLA). FD is a known cause of stroke in younger patients. There are limited data on prevalence...

Cite
Tomek A, Petra R, Paulasová Schwabová J, et al. Nationwide screening for Fabry disease in unselected stroke patients. PLoS One. 2021;16(12):e0260601doi: 10.1371/journal.pone.0260601.
Tomek, A., Petra, R., Paulasová Schwabová, J., Olšerová, A., Škorňa, M., Nevšímalová, M., Šimůnek, L., Herzig, R., Fafejtová, �. �., Mikulenka, P., Táboříková, A., Neumann, J., Brzezny, R., Sobolová, H., Bartoník, J., Václavík, D., Vachová, M., Bechyně, K., Havlíková, H., Prax, T., Šaňák, D., Černíková, I., Ondečková, I., Procházka, P., Rajner, J., Škoda, M., Novák, J., Škoda, O., Bar, M., Mikulík, R., Dostálová, G., Linhart, A. (2021). Nationwide screening for Fabry disease in unselected stroke patients. PloS one, 16(12), e0260601. https://doi.org/10.1371/journal.pone.0260601
Tomek, Aleš, et al. "Nationwide screening for Fabry disease in unselected stroke patients." PloS one vol. 16,12 (2021): e0260601. doi: https://doi.org/10.1371/journal.pone.0260601
Tomek A, Petra R, Paulasová Schwabová J, Olšerová A, Škorňa M, Nevšímalová M, Šimůnek L, Herzig R, Fafejtová Š, Mikulenka P, Táboříková A, Neumann J, Brzezny R, Sobolová H, Bartoník J, Václavík D, Vachová M, Bechyně K, Havlíková H, Prax T, Šaňák D, Černíková I, Ondečková I, Procházka P, Rajner J, Škoda M, Novák J, Škoda O, Bar M, Mikulík R, Dostálová G, Linhart A. Nationwide screening for Fabry disease in unselected stroke patients. PLoS One. 2021 Dec 14;16(12):e0260601. doi: 10.1371/journal.pone.0260601. eCollection 2021. PMID: 34905550.
Copy Download .nbib Format: NLM
Showing 1 to 4 of 4 entries