Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Sonia do Vale"'
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:
Ana Filipa Martins, Joao Martin Martins, Sonia do Vale, Cristopher Juhlin, Lucas Batista, Marco Franco, Dolores Lopez-Presa, Gabriel Miltenberger-Miltenyi
Publikováno v:
Journal of Endocrinology and Metabolism. 5:184-188
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3c9f9abe1990bc76adab4f1e4d2ef8d2
https://doi.org/10.14740/jem240w
https://doi.org/10.14740/jem240w
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
Akademický článek
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Autor:
Bonafé, Luisa, Liang, Jinlong, Gorna, Maria W., Zhang, Qingyan, Ha‐Vinh, Russia, Campos‐Xavier, Ana Belinda, Unger, Sheila, Beckmann, Jacques S., Le Béchec, Antony, Stevenson, Brian, Giedion, Andres, Liu, Xuanzhu, Superti‐Furga, Giulio, Wang, Wei, Spahr, André, Superti‐Furga, Andrea
Publikováno v:
American Journal of Medical Genetics. Part A; May2014, Vol. 164A Issue 5, p1175-1179, 5p
Autor:
Gerald Litwack
Dehydroepiandrosterone, Volume 108, the latest release in the Vitamins and Hormones series first published in 1943, covers the field of hormone action, vitamin action, X-ray crystal structure, physiology and enzyme mechanisms, with this release focus
Autor:
J. Alan Branch
Lady Gaga's song'Born This Way'has become an anthem for homosexual rights, asserting in a simplistic fashion that same-sex attraction is a trait much like hair or skin color. In Born This Way?, the author surveys the most common scientific arguments