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2008 Mole SE, Williams RE, Goebel HH: Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses

doi: 10.1016/j.ajpath.2012.10.014 75 ZlokovicBV

But the question is, can they be linked to the loss of small fibers in the skin

MADD is a disorder that results from mutations in either of the two genes that encode the protein components of the heterodimeric complex identified as electron transfer flavoprotein (ETF) or the gene encoding electron transfer flavoprotein dehydrogenase (encoded by the ETFDH gene)

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In vitro reconstitution of the pathway was only observed upon IPTG induction