Cargando…
Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria
Inborn errors of metabolism (IEMs) are a group of monogenic disorders characterized by dysregulation of the metabolic networks that underlie development and homeostasis. Emerging evidence points to oxidative stress and mitochondrial dysfunction as major contributors to the multiorgan alterations obs...
Autores principales: | Richard, Eva, Gallego-Villar, Lorena, Rivera-Barahona, Ana, Oyarzábal, Alfonso, Pérez, Belén, Rodríguez-Pombo, Pilar, Desviat, Lourdes R. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5884027/ https://www.ncbi.nlm.nih.gov/pubmed/29743968 http://dx.doi.org/10.1155/2018/1246069 |
Ejemplares similares
-
Endoplasmic Reticulum Stress and Autophagy in Homocystinuria Patients with Remethylation Defects
por: Martínez-Pizarro, Ainhoa, et al.
Publicado: (2016) -
The Value of 1H-MRS and MRI in Combined Methylmalonic Aciduria and Homocystinuria
por: Cheng, Ailan, et al.
Publicado: (2019) -
The value of neuroimaging in the assessment and follow-up of early-onset methylmalonic aciduria and homocystinuria()
por: de Benedictis, Fernando M., et al.
Publicado: (2014) -
Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria
por: Grandone, Elvira, et al.
Publicado: (2019) -
Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria
por: Schnabel, Elena, et al.
Publicado: (2023)