Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Annemarijne R.J. Veenvliet"'
Autor:
Annemarijne R.J. Veenvliet, Mark R. Garrelfs, Floris E.A. Udink ten Cate, Sacha Ferdinandusse, Simone Denis, Sabine A. Fuchs, Marit Schwantje, Rosa Geurtzen, Annemiek M.J. van Wegberg, Marleen C.D.G. Huigen, Leo A.J. Kluijtmans, Ronald J.A. Wanders, Terry G.J. Derks, Lonneke de Boer, Riekelt H. Houtkooper, Maaike C. de Vries, Clara D.M. van Karnebeek
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100873- (2022)
Isolated long-chain 3-keto-acyl CoA thiolase (LCKAT) deficiency is a rare long-chain fatty acid oxidation disorder caused by mutations in HADHB. LCKAT is part of a multi-enzyme complex called the mitochondrial trifunctional protein (MTP) which cataly
Externí odkaz:
https://doaj.org/article/951d3f5cefdf44feb0d7f388e71af87c
Autor:
Elise A. Ferreira, Annemarijne R.J. Veenvliet, Udo F.H. Engelke, Leo A.J. Kluijtmans, Marleen C.D.G. Huigen, Brechtje Hoegen, Lonneke de Boer, Maaike C. de Vries, Bregje W. van Bon, Erika Leenders, Elisabeth A.M. Cornelissen, Charlotte A. Haaxma, Jolanda H. Schieving, M. Estela Rubio-Gozalbo, Irene M.L.W. Körver-Keularts, Lara M. Marten, Susann Diegmann, Jeroen Mourmans, Alexander J.M. Rennings, Clara D.M. van Karnebeek, Richard J. Rodenburg, Karlien L.M. Coene
Publikováno v:
Genetics in Medicine, 25(1), 125-134. Lippincott Williams and Wilkins
Ferreira, E A, Veenvliet, A R J, Engelke, U F H, Kluijtmans, L A J, Huigen, M C D G, Hoegen, B, de Boer, L, de Vries, M C, van Bon, B W, Leenders, E, Cornelissen, E A M, Haaxma, C A, Schieving, J H, Rubio-Gozalbo, M E, Körver-Keularts, I M L W, Marten, L M, Diegmann, S, Mourmans, J, Rennings, A J M, van Karnebeek, C D M, Rodenburg, R J & Coene, K L M 2023, ' Diagnosing, discarding, or de-VUSsing : A practical guide to (un)targeted metabolomics as variant-transcending functional tests ', Genetics in Medicine, vol. 25, no. 1, pp. 125-134 . https://doi.org/10.1016/j.gim.2022.10.002
Genetics in medicine. Lippincott Williams and Wilkins
Genetics in Medicine, 25, 125-134
Genetics in Medicine, 25(1), 125-134. Nature Publishing Group
Genetics in Medicine, 25, 1, pp. 125-134
Ferreira, E A, Veenvliet, A R J, Engelke, U F H, Kluijtmans, L A J, Huigen, M C D G, Hoegen, B, de Boer, L, de Vries, M C, van Bon, B W, Leenders, E, Cornelissen, E A M, Haaxma, C A, Schieving, J H, Rubio-Gozalbo, M E, Körver-Keularts, I M L W, Marten, L M, Diegmann, S, Mourmans, J, Rennings, A J M, van Karnebeek, C D M, Rodenburg, R J & Coene, K L M 2023, ' Diagnosing, discarding, or de-VUSsing : A practical guide to (un)targeted metabolomics as variant-transcending functional tests ', Genetics in Medicine, vol. 25, no. 1, pp. 125-134 . https://doi.org/10.1016/j.gim.2022.10.002
Genetics in medicine. Lippincott Williams and Wilkins
Genetics in Medicine, 25, 125-134
Genetics in Medicine, 25(1), 125-134. Nature Publishing Group
Genetics in Medicine, 25, 1, pp. 125-134
PURPOSE: For patients with inherited metabolic disorders (IMDs), any diagnostic delay should be avoided because early initiation of personalized treatment could prevent irreversible health damage. To improve diagnostic interpretation of genetic data,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6af089065fb3e1c4e83410f8c0f4dca8
https://pubmed.ncbi.nlm.nih.gov/36350326
https://pubmed.ncbi.nlm.nih.gov/36350326