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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...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Liu, Jinrong, Peng, Yun, Zhou, Nan, Liu, Xiaorong, Meng, Qun, Xu, Hui, Zhao, Shunying
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5360033/
https://ncbi.nlm.nih.gov/pubmed/28327205
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0610-8
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