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Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B(12) metabolism: A meta-analysis

Inherited disorders of B(12) metabolism produce a broad spectrum of manifestations, with limited knowledge of the influence of age and the function of related genes. We report a meta-analysis on 824 patients with a genetically proven diagnosis of an inherited disorder of vitamin B(12) metabolism. Ge...

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Detalles Bibliográficos
Autores principales: Wiedemann, Arnaud, Oussalah, Abderrahim, Lamireau, Nathalie, Théron, Maurane, Julien, Melissa, Mergnac, Jean-Philippe, Augay, Baptiste, Deniaud, Pauline, Alix, Tom, Frayssinoux, Marine, Feillet, François, Guéant, Jean-Louis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9381384/
https://www.ncbi.nlm.nih.gov/pubmed/35764087
http://dx.doi.org/10.1016/j.xcrm.2022.100670