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Keywords: propionic acidemia
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Cecilie Morland, Anne-Sofie Frøland, Mi Nguyen Pettersen, Jon Storm-Mathisen, Vidar Gundersen, Frode Rise, Bjørnar Hassel
Journal:
Biochemical Journal
Biochem J (2018) 475 (4): 749–758.
Published: 16 February 2018
...Cecilie Morland; Anne-Sofie Frøland; Mi Nguyen Pettersen; Jon Storm-Mathisen; Vidar Gundersen; Frode Rise; Bjørnar Hassel Propionic acidemia is the accumulation of propionate in blood due to dysfunction of propionyl-CoA carboxylase. The condition causes lethargy and striatal degeneration with motor...