Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
出版年份 2014 全文链接
标题
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
作者
关键词
Methylmalonic acidemia, Methylmalonic aciduria, Propionic acidemia, Propionic aciduria, Methylmalonyl-CoA mutase, Propionyl-CoA carboxylase, Vitamin B12/adenosylcobalamin, Biotin, Hyperammonemia, Metabolic decompensation, Metabolic stroke (-like event), Movement disorder, Seizures, Intellectual disability
出版物
Orphanet Journal of Rare Diseases
Volume 9, Issue 1, Pages -
出版商
Springer Nature
发表日期
2014-09-01
DOI
10.1186/s13023-014-0130-8
参考文献
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