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CoQ(10) Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome

CoQ(10) deficiency has been recently described in tissues of a patient with GLUT1 deficiency syndrome. Here, we investigated patients and mice with GLUT1 deficiency in order to determine whether low CoQ is a recurrent biochemical feature of this disorder, to justify CoQ(10) supplementation as therap...

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Publicat a:JIMD Rep
Autors principals: Barca, Emanuele, Tang, Maoxue, Kleiner, Giulio, Engelstad, Kristin, DiMauro, Salvatore, Quinzii, Catarina M., De Vivo, Darryl C.
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2015
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5059199/
https://ncbi.nlm.nih.gov/pubmed/26615598
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_493
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