Development of infantile tremor syndrome after initiation of hydroxycobalamin treatment in an infant with a late diagnosis of cobalamin C disorder

Combined methylmalonic aciduria and homocystinuria (cobalamin C deficiency, cblC) is a well‐described disorder of vitamin B(12) metabolism caused by mutations in the MMACHC gene with multisystemic manifestations. While there is no cure, combined treatment with intramuscular hydroxycobalamin and oral...

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Detalles Bibliográficos
Autores principales: Wilson, Ashley, Cruz, Vivian, Kronick, Jonathan B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7463060/
https://www.ncbi.nlm.nih.gov/pubmed/32905057
http://dx.doi.org/10.1002/jmd2.12145

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7463060/
https://www.ncbi.nlm.nih.gov/pubmed/32905057
http://dx.doi.org/10.1002/jmd2.12145

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