Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach | Orphanet Journal of Rare Diseases | Full Text

Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach | Orphanet Journal of Rare Diseases | Full Text

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

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...

Authors:H. A. Haijes, J. J. M. Jans, M. van der Ham, P. M. van Hasselt and N. M. Verhoeven-Duif

Citation:Orphanet Journal of Rare Diseases 2020 15:68

Content type:Research

Published on: 6 March 2020

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