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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Bibliografske podrobnosti
izdano v:JIMD Rep
Main Authors: 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
Jezik:Inglês
Izdano: Springer Berlin Heidelberg 2016
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Article
Online dostop: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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