Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach

Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach

Abstract Background Pathophysiology of life-threatening acute metabolic decompensations (AMD) in propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) is insufficiently understood. Here, we study the metabolomes of PA and MMA patients over time, to improve insight in which biochemical pr...

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Bibliographic Details
Main Authors: H. A. Haijes, J. J. M. Jans, M. van der Ham, P. M. van Hasselt, N. M. Verhoeven-Duif
Format: Article
Language:English
Published: BMC 2020-03-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Propionic acidemia
PA
Methylmalonic acidemia
MMA
Pathophysiology
Acute metabolic decompensation
Online Access:http://link.springer.com/article/10.1186/s13023-020-1347-3

Internet

http://link.springer.com/article/10.1186/s13023-020-1347-3

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