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

Abstract 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‐ons...

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Detalhes bibliográficos

Principais autores:	Tomoyasu Higashimoto, Alexander Y. Kim, Jessica T. Ogawa, Jennifer L. Sloan, Mohammed A. Almuqbil, Julia M. Carlson, Irini Manoli, Charles P. Venditti, Meral Gunay‐Aygun, Tao Wang
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2020-01-01
coleção:	JIMD Reports
Assuntos:	cblC cobalamin C combined methylmalonic acidemia and homocystinuria Hydroxocobalamin intracellular cobalamin metabolism MMACHC
Acesso em linha:	https://doi.org/10.1002/jmd2.12087
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