New Cases that Expand the Genotypic and Phenotypic Spectrum of Congenital NAD Deficiency Disorder

Nicotinamide adenine dinucleotide (NAD) is an essential cofactor involved in over 400 cellular reactions. During embryogenesis, mammals synthesize NAD de novo from dietary L-tryptophan via the kynurenine pathway. Biallelic, inactivating variants in three genes encoding enzymes of this biosynthesis p...

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Publicado no:Hum Mutat
Main Authors: Szot, Justin O., Slavotinek, Anne, Chong, Karen, Brandau, Oliver, Nezarati, Marjan, Cueto-González, Anna M., Patel, Millan S., Devine, Walter P., Rego, Shannon, Acyinena, Alicia P., Shannon, Patrick, Myles-Reid, Diane, Blaser, Susan, Mieghem, Tim V., Yavuz-Kienle, Halenur, Skladny, Heyko, Miller, Kristen, Riera, Miereia D.T., Martínez, Silvia A., Tizzano, Eduardo F., Dupuis, Lucie, Stavropoulos, D. James, McNiven, Vanda, Mendoza-Londono, Roberto, Elliott, Alison M., Phillips, Robert S., Chapman, Gavin, Dunwoodie, Sally L.
Formato: Artigo
Idioma:Inglês
Publicado em: 2021
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8238843/
https://ncbi.nlm.nih.gov/pubmed/33942433
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24211
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