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glutaric acidemia type 2, bezafibrate

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https://www.readbyqxmd.com/read/22841441/bezafibrate-can-be-a-new-treatment-option-for-mitochondrial-fatty-acid-oxidation-disorders-evaluation-by-in-vitro-probe-acylcarnitine-assay
#1
Seiji Yamaguchi, Hong Li, Jamiyan Purevsuren, Kenji Yamada, Midori Furui, Tomoo Takahashi, Yuichi Mushimoto, Hironori Kobayashi, Yuki Hasegawa, Takeshi Taketani, Toshiyuki Fukao, Seiji Fukuda
BACKGROUND: The number of patients with mitochondrial fatty acid oxidation (FAO) disorders is recently becoming larger with the spread of newborn mass screening. Despite the advances in metabolic and molecular characterization of FAO disorders, the therapeutic studies are still limited. It was reported recently that bezafibrate (BEZ), an agonist of peroxisome proliferating activator receptor (PPAR), can restore FAO activity in cells from carnitine palmitoyltransferase-2 (CPT2) and very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiencies as well as clinical symptoms in the adult patients...
September 2012: Molecular Genetics and Metabolism
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