Triheptanoin – Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency

Mitochondrial malate dehydrogenase (MDH2) deficiency (MDH2D) is an ultra-rare disease with only three patients described in literature to date. MDH2D leads to an interruption of the tricarboxylic acid (TCA) cycle and malate-aspartate shuttle (MAS) and results in severe early onset encephalopathy. Af...

Descripción completa

Detalles Bibliográficos
Autores principales: Laemmle, Alexander, Steck, Andrea Lisa, Schaller, André, Kurth, Sandra, Perret Hoigné, Eveline, Felser, Andrea Deborah, Slavova, Nedelina, Salvisberg, Claudia, Atencio, Mariana, Mochel, Fanny, Nuoffer, Jean-Marc, Gautschi, Matthias
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8529553/
https://www.ncbi.nlm.nih.gov/pubmed/34712577
http://dx.doi.org/10.1016/j.ymgmr.2021.100814

Ejemplares similares

Ejemplares similares