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...
Kaydedildi:
| Asıl Yazarlar: | , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BMC
2020-03-01
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| Seri Bilgileri: | Orphanet Journal of Rare Diseases |
| Konular: | |
| Online Erişim: | http://link.springer.com/article/10.1186/s13023-020-1347-3 |
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