Zobrazeno 1 - 10
of 322
pro vyhledávání: '"Rodenburg, R.J.T."'
Autor:
O'Byrne, J.J., Tarailo-Graovac, M., Ghani, Aisha, Champion, M.P., Deshpande, Charu, Dursun, Ali, Kluijtmans, L.A.J., Smeitink, J., Wevers, R.A., Engelke, U.F.H., Rodenburg, R.J.T., Salvarinova, R., Karnebeek, C.D. van
Publikováno v:
Molecular Genetics and Metabolism, 123, 1, pp. 28-42
Molecular Genetics and Metabolism, 123, 28-42
Molecular Genetics and Metabolism, 123, 28-42
Contains fulltext : 184066.pdf (Publisher’s version ) (Open Access)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a954fd676fb43e5dca2ed769ec423c5c
https://hdl.handle.net/2066/184066
https://hdl.handle.net/2066/184066
Akademický článek
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Autor:
Blankvoort, B.M.G., de Groene, E.M., van Meeteren-Kreikamp, A.P., Witkamp, R.F., Rodenburg, R.J.T., Aarts, J.M.M.J.G.
Publikováno v:
In Analytical Biochemistry 1 November 2001 298(1):93-102
Publikováno v:
Clinical Genetics, 91, 4, pp. 629-633
Clinical Genetics, 91, 629-633
Clinical Genetics, 91, 629-633
Contains fulltext : 170068.pdf (Publisher’s version ) (Closed access) Short-chain enoyl-CoA hydratase (SCEH) is a mitochondrial enzyme involved in the oxidation of fatty acids and the catabolic pathway of valine and, to a lesser extent, isoleucine.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::77f79b471e6397c65a23c51f2ce82e6c
https://hdl.handle.net/2066/170068
https://hdl.handle.net/2066/170068
Autor:
Dijk, T. van, Ruissen, F. van, Jaeger, B., Rodenburg, R.J.T., Tamminga, S., Maarle, M. van, Baas, F., Wolf, N.I., Poll-The, B.T.
Publikováno v:
Jimd Reports, 33, 87-92
JIMD reports, 33, 87-92. Springer Berlin
Jimd Reports, 33, pp. 87-92
JIMD reports, 33, 87-92. Springer Berlin
Jimd Reports, 33, pp. 87-92
Item does not contain fulltext Mutations in the mitochondrial arginyl tRNA synthetase (RARS2) gene are associated with Pontocerebellar Hypoplasia type 6 (PCH6). Here we report two patients, compound heterozygous for RARS2 mutations, presenting with e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e67f7c357f064c44ad4d22f4b6b99473
http://hdl.handle.net/2066/173929
http://hdl.handle.net/2066/173929
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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K zobrazení výsledku je třeba se přihlásit.
Autor:
Nabuurs, C.I.H.C., Choe, C.U., Veltien, A.A., Kan, H.E., Loon, L.J.C. van, Rodenburg, R.J.T., Matschke, J., Wieringa, B., Kemp, G.J., Isbrandt, D., Heerschap, A.
Publikováno v:
Journal of Physiology, 591(2), 571-592. Wiley
Journal of Physiology, 591, 571-92
Journal of Physiology, 591, Pt 2, pp. 571-92
Journal of Physiology, 591, 571-92
Journal of Physiology, 591, Pt 2, pp. 571-92
Contains fulltext : 118302.pdf (Publisher’s version ) (Closed access) Creatine (Cr) plays an important role in muscle energy homeostasis by its participation in the ATP-phosphocreatine phosphoryl exchange reaction mediated by creatine kinase. Given
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::cd87e57907502202024c5418dd89b8f9
https://doi.org/10.1113/jphysiol.2012.241760
https://doi.org/10.1113/jphysiol.2012.241760
Autor:
Maas, R.R., Marina, A.D., Brouwer, A.P.M. de, Wevers, R.A., Rodenburg, R.J.T., Wortmann, S.B.
Publikováno v:
Jimd Reports, 27, pp. 27-32
Jimd Reports, 27, 27-32
Jimd Reports, 27, 27-32
Item does not contain fulltext SUCLA2 encodes for a subunit of succinyl-coenzyme A synthase, the enzyme that reversibly synthesises succinyl-coenzyme A and ATP from succinate, coenzyme A and ADP in the Krebs cycle. Disruption of SUCLA2 function can l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::f8bc92d0a3eff8511a9548785b4be198
https://hdl.handle.net/2066/168131
https://hdl.handle.net/2066/168131
Autor:
Salis Torres, Agustina1,2 (AUTHOR) asalist@ed.ac.uk, Lee, Ji-Eun1,3 (AUTHOR) jlee20@ed.ac.uk, Caporali, Andrea4 (AUTHOR) acaporal@exseed.ed.ac.uk, Semple, Robert K.4 (AUTHOR) rsemple@exseed.ed.ac.uk, Horrocks, Mathew H.2,5 (AUTHOR), MacRae, Vicky E.1 (AUTHOR) vicky.macrae@roslin.ed.ac.uk
Publikováno v:
International Journal of Molecular Sciences. Oct2024, Vol. 25 Issue 20, p10973. 30p.
Autor:
Drygalski, Krzysztof1 (AUTHOR) drygalskikrzysztof@gmail.com, Maciejczyk, Mateusz2 (AUTHOR) mat.maciejczyk@gmail.com, Miksza, Urszula3 (AUTHOR) urszula.miksza@umb.edu.pl, Ustymowicz, Andrzej4 (AUTHOR), Godzień, Joanna5 (AUTHOR) angelika.buczynska@umb.edu.pl, Buczyńska, Angelika5 (AUTHOR) karolina.pietrowska@umb.edu.pl, Chomentowski, Andrzej6 (AUTHOR) andrzej.chomentowski@sd.umb.edu.pl, Walczak, Iga7 (AUTHOR) igawalczak@gumed.edu.pl, Pietrowska, Karolina5 (AUTHOR) julia.sieminska@umb.edu.pl, Siemińska, Julia5 (AUTHOR) michal.ciborowski@umb.edu.pl, Pawlukianiec, Cezary8 (AUTHOR), Czajkowski, Przemysław3 (AUTHOR) przemyslaw.czajkowski@umb.edu.pl, Fiedorczuk, Joanna3 (AUTHOR) joanna.fiedorczuk@umb.edu.pl, Moroz, Monika3 (AUTHOR) monika.moroz@umb.edu.pl, Modzelewska, Beata6 (AUTHOR) beata.modzelewska@umb.edu.pl, Zalewska, Anna9 (AUTHOR) stom.dos@umb.edu.pl, Kutryb-Zając, Barbara7 (AUTHOR) b.kutryb-zajac@gumed.edu.pl, Kleszczewski, Tomasz6 (AUTHOR) tomasz.kleszczewski@umb.edu.pl, Ciborowski, Michał5 (AUTHOR), Hady, Hady Razak10 (AUTHOR)
Publikováno v:
International Journal of Molecular Sciences. Oct2024, Vol. 25 Issue 19, p10291. 22p.