High‐dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency

Cobalamin C (cblC) deficiency is the most common inborn error of intracellular cobalamin metabolism caused by pathogenic variant(s) in MMACHC and manifests with methylmalonic acidemia, hyperhomocysteinemia, and hypomethioninemia with a variable age of presentation. Individuals with late‐onset cblC m...

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Detalles Bibliográficos
Autores principales: Higashimoto, Tomoyasu, Kim, Alexander Y., Ogawa, Jessica T., Sloan, Jennifer L., Almuqbil, Mohammed A., Carlson, Julia M., Manoli, Irini, Venditti, Charles P., Gunay‐Aygun, Meral, Wang, Tao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7012733/
https://www.ncbi.nlm.nih.gov/pubmed/32071835
http://dx.doi.org/10.1002/jmd2.12087

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