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Description
Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome

Since -oxidation catabolises fatty acids into NADH, FADH 2 , and acetyl-CoA, which enters the TCA cycle, upregulated -oxidation results in the degradation of fatty acids and increased ATP production

doi: 10.1016/j.neuroimage.2010.11.089

Di LorenzoCBalleriniGBarbantiPBernardiniADarrigoGEgeoGet al
