Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients

Combined methylmalonic acidemia (MMA) and homocysteinemia are a group of autosomal recessive disorders caused by inborn errors of cobalamin metabolism, including CblC, D, F, and J, with cblC being the most common subtype. The clinical manifestations of combined MMA and homocysteinemia vary, but typi...

Descripción completa

Detalles Bibliográficos
Autores principales: Liu, Jinrong, Peng, Yun, Zhou, Nan, Liu, Xiaorong, Meng, Qun, Xu, Hui, Zhao, Shunying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5360033/
https://www.ncbi.nlm.nih.gov/pubmed/28327205
http://dx.doi.org/10.1186/s13023-017-0610-8

Ejemplares similares

Ejemplares similares