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

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 processes...

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Detalles Bibliográficos
Autores principales:	Haijes, H. A., Jans, J. J. M., van der Ham, M., van Hasselt, P. M., Verhoeven-Duif, N. M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060614/ https://www.ncbi.nlm.nih.gov/pubmed/32143654 http://dx.doi.org/10.1186/s13023-020-1347-3

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