A New Approach for Fast Metabolic Diagnostics in CMAMMA

Background: The presence of increased urinary concentrations of both methylmalonic acid (MMA) and malonic acid (MA) is assumed to differentiate combined malonic and methylmalonic aciduria (CMAMMA), due to mutations in the ACSF3 gene, from other causes of methylmalonic aciduria (classic MMAemia). Det...

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Publicat a:JIMD Rep
Autors principals: de Sain-van der Velden, Monique G. M., van der Ham, Maria, Jans, Judith J., Visser, Gepke, Prinsen, Hubertus C. M. T., Verhoeven-Duif, Nanda M., van Gassen, Koen L. I., van Hasselt, Peter M.
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2016
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5110436/
https://ncbi.nlm.nih.gov/pubmed/26915364
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_531
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