Zobrazeno 1 - 10
of 141
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
Publikováno v:
Journal of Veterinary Pharmacology and Therapeutics, 28, 531-7
Journal of Veterinary Pharmacology and Therapeutics, 28, 6, pp. 531-7
Journal of Veterinary Pharmacology and Therapeutics, 28, 6, pp. 531-7
Contains fulltext : 32642.pdf (Publisher’s version ) (Closed access) In this study the anti-inflammatory properties of zilpaterol, a beta2-adrenergic receptor (AR) agonist specifically developed as a growth promoter in cattle were investigated. Alt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e6d0fde582b2206586fbd6c81d3e2c30
https://hdl.handle.net/2066/32642
https://hdl.handle.net/2066/32642
Autor:
Smith, P.M., Elson, J.L., Greaves, L.C., Wortmann, S.B., Rodenburg, R.J.T., Lightowlers, R.N., Chrzanowska-Lightowlers, Z.M., Taylor, R.W., Vila-Sanjurjo, A.
Publikováno v:
Human Molecular Genetics, 23, 949-67
Human Molecular Genetics, 23, 4, pp. 949-67
Human Molecular Genetics, 23, 4, pp. 949-67
Item does not contain fulltext Mutations of mitochondrial DNA are linked to many human diseases. Despite the identification of a large number of variants in the mitochondrially encoded rRNA (mt-rRNA) genes, the evidence supporting their pathogenicity
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e08dad6b23bc95ebaa266a58f8c1758e
http://hdl.handle.net/2066/137073
http://hdl.handle.net/2066/137073