檢索結果 - Lenka Mrázová
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Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (<i>HGSNAT</i>) gene 由 Matthew Feldhammer, Stéphanie Durand, Lenka Mrázová, Renée-Myriam Boucher, Rachel Laframboise, Robert Steinfeld, J. E. Wraith, Helen Michelakakis, Otto P. van Diggelen, Martin Hřebı́ček, Stanislav Kmoch, Alexey V. Pshezhetsky
出版 2009Revisão -
2
Sodium-glucose cotransporter 2 inhibitors induce anti-inflammatory and anti-ferroptotic shift in epicardial adipose tissue of subjects with severe heart failure 由 Barbora Judita Kasperová, Miloš Mráz, Petr Svoboda, Daniel Hlaváček, Helena Kratochvílová, István Módos, Nikola Vrzáčková, Peter Ivák, Petra Janovská, Tatyana Kobets, Jakub Mahrík, Martin Riecan, Lenka Mrázová, Viktor Stránecký, Ivan Netuka, Tomáš Čajka, Ondřej Kuda, Vojtěch Melenovský, Soňa Hubáčková, Martin Haluzı́k
出版 2024Artigo -
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European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences 由 Julia Vry, K. Gramsch, Sunil Rodger, Rachel Thompson, Birgit F. Steffensen, Jes Rahbek, Sam Doerken, Adrian Tassoni, M. Beytia, Velina Guergueltcheva, Teodora Chamova, Ivailo Tournev, Anna Kostera‐Pruszczyk, Anna Kamińska, Anna Łusakowska, Lenka Mrázová, Lenka Pavlovská, Jana Strenková, Petr Vondráček, Miklós Garami, Veronika Karcagi, Ágnes Herczegfalvi, K. Bushby, Hanns Lochmüller, Janbernd Kirschner
出版 2016Artigo -
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Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome) 由 Martin Hřebı́ček, Lenka Mrázová, Volkan Seyrantepe, Stéphanie Durand, Nicole M. Roslin, Lenka Nosková, Hana Hartmannová, Robert Ivánek, Alena Čížková, Helena Poupětová, Jakub Sikora, Jana Uřinovská, Viktor Stránecký, J Zeman, Pierre Lepage, David Roquis, Andrei Verner, Jérôme Ausseil, Clare Beesley, Irène Maire, Ben J. H. M. Poorthuis, Jiddeke van de Kamp, Otto P. van Diggelen, Ron A. Wevers, Thomas J. Hudson, Takuya Fujiwara, Jacek Majewski, Kenneth Morgan, Stanislav Kmoch, Alexey V. Pshezhetsky
出版 2006Artigo
相關主題
Biochemistry
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Gene
Genetics
Internal medicine
Medicine
Missense mutation
Molecular biology
Mutation
Nonsense mutation
Adipose tissue
Ambulatory
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Cell
Cross-sectional study
Diabetes mellitus
Duchenne muscular dystrophy
Economic growth
Economics
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Endocrinology
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Frameshift mutation
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Heart failure
Heparan sulfate
Inflammation
Lysosomal storage disease