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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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2019
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7012733/
https://ncbi.nlm.nih.gov/pubmed/32071835
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12087
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