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  1. Article

    Deficiency of the Voltage-Dependent Anion Channel: A Novel Cause of Mitochondriopathy

    A patient with a deficient voltage-dependent anion channel (VDAC) is reported, presenting clinically with psychomotor retardation and minor dysmorphic features. Biochemical studies on muscle mitochondria showe...

    Marjan Huizing, Wim Ruitenbeek, Friedrich P Thinnes, Vito Depinto in Pediatric Research (1996)

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    Article

    Importance of mitochondrial transmembrane processes in human mitochondriopathies

    In a substantial group of subjects suspected to have a mitochondriopathy no defect in the mitochondrial energy metabolism (pyruvate dehydrogenase complex or respiratory chain complexes) can be demonstrated. At...

    Marjan Huizing, Vito DePinto, Wim Ruitenbeek in Journal of Bioenergetics and Biomembranes (1996)