Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Sonia Do Vale Pereira"'
Autor:
Hong-Phuc, Cudré-Cung, Noémie, Remacle, Sonia, do Vale-Pereira, Mary, Gonzalez, Hugues, Henry, Julijana, Ivanisevic, Jessica, Schmiesing, Chris, Mühlhausen, Olivier, Braissant, Diana, Ballhausen
Publikováno v:
Molecular genetics and metabolism. 126(4)
Glutaric Aciduria type I (GA-I) is caused by mutations in the GCDH gene. Its deficiency results in accumulation of the key metabolites glutaric acid (GA) and 3-hydroxyglutaric acid (3-OHGA) in body tissues and fluids. Present knowledge on the neuropa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::509b461b5f69a402488c69cafec7a481
https://pubmed.ncbi.nlm.nih.gov/30686684
https://pubmed.ncbi.nlm.nih.gov/30686684
Autor:
Noémie Remacle, Paris Jafari, Diana Ballhausen, Olivier Braissant, Hong-Phuc Cudré-Cung, Sonia Do Vale Pereira
Publikováno v:
Neuroscience. 343
Glutaryl-CoA dehydrogenase (GCDH) is a mitochondrial enzyme that is involved in the degradation of tryptophan, lysine and hydroxylysine. Deficient enzyme activity leads to glutaric aciduria type-I (GA-I). This neurometabolic disease usually manifests
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3901163a79d2661ac4c1786799365cfd
https://pubmed.ncbi.nlm.nih.gov/27984186
https://pubmed.ncbi.nlm.nih.gov/27984186