Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Marjon vanSlegtenhorst"'
Autor:
Maria Eleftheriadou, Evita Medici‐ van den Herik, Kyra Stuurman, Yolande vanBever, Debby M. E. I. Hellebrekers, Marjon vanSlegtenhorst, George Ruijter, Tahsin Stefan Barakat
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 2, Pp n/a-n/a (2021)
Abstract Background Isobutyryl‐CoA dehydrogenase (IBD) is a mitochondrial enzyme catalysing the third step in the degradation of the essential branched‐chain amino acid valine and is encoded by ACAD8. ACAD8 mutations lead to isobutyryl‐CoA dehy
Externí odkaz:
https://doaj.org/article/df566ba37f2b46eb9875fd0d91d44cc8
Autor:
Fenja Markus, Chloé Angelini, Aurelien Trimouille, Gabrielle Rudolf, Gaetan Lesca, Cyril Goizet, Eulalie Lasseaux, Benoit Arveiler, Marjon vanSlegtenhorst, Alice S. Brooks, Rami Abou Jamra, Georg‐Christoph Korenke, John Neidhardt, Marta Owczarek‐Lipska
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Abstract Background Epilepsy belongs to a group of chronic and highly heterogeneous brain disorders. Many types of epilepsy and epileptic syndromes are caused by genetic factors. The neural amino acid y‐aminobutyric acid (GABA) is a major inhibitor
Externí odkaz:
https://doaj.org/article/2953f38a05f94b3ba93aa65cf0fdc85f