Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
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Title
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
Authors
Keywords
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
Journal
Orphanet Journal of Rare Diseases
Volume 9, Issue 1, Pages -
Publisher
Springer Nature
Online
2014-09-01
DOI
10.1186/s13023-014-0130-8
References
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