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11 Result(s)

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  1. No Access

    Article

    Benign mitochondrial encephalomyopathy in a patient with complex I deficiency

    J. M. F. Trijbels, W. Ruitenbeek… in Journal of Inherited Metabolic Disease (1996)

  2. No Access

    Article

    The use of chorionic villi in prenatal diagnosis of mitochondriopathies

    W. Ruitenbeek, R. C. A. Sengers… in Journal of Inherited Metabolic Disease (1992)

  3. No Access

    Article

    Lipid peroxidation in homocysteinaemia

    H. J. Blom, D. P. E. Engelen, G. H. J. Boers… in Journal of Inherited Metabolic Disease (1992)

  4. No Access

    Article

    Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucose

    Formation of lactate and pyruvate from glucose was studied in cultured amniocytes and chorionic villus fibroblasts from controls, either untreated or treated with azide, an inhibitor of cytochromec oxidase, or ot...

    R. J. A. Wanders, F. A. Wijburg, J. Ruiter… in Journal of Inherited Metabolic Disease (1992)

  5. No Access

    Article

    Detection of respiratory chain dysfunction by measuring lactate and pyruvate production in cultured fibroblasts

    F. A. Wijburg, N. Feller, W. Ruitenbeek… in Journal of Inherited Metabolic Disease (1990)

  6. No Access

    Article

    Heterogeneous tissue expression of enzyme defects in mitochondrial myopathies

    W. Sperl, W. Ruitenbeek, J. M. F. Trijbels… in Journal of Inherited Metabolic Disease (1990)

  7. No Access

    Article

    Mitochondrial Myopathies: Multiple Enzyme Defects in the Respiratory Chain

    W. Ruitenbeek, J. M. F. Trijbels, J. C. Fischer… in Journal of Inherited Metabolic Disease (1989)

  8. No Access

    Article

    Combined deficiencies of complexes III and IV of the respiratory chain, involving both nuclear and mitochondrial gene products, in skeletal muscle of a patient with lactic acidosis

    N. G. Kennaway, M. L. Wagner, R. A. Capaldi… in Journal of Inherited Metabolic Disease (1987)

  9. No Access

    Article

    Secondary mitochondrial pathology

    A considerable number of myopathies seem to involve the mitochondria but the various causes may be situated outside the mitochondria. These can be categorized as (1) deficiency; (2) intoxication; (3) disturbed...

    R. C. A. Sengers, A. M. Stadhouders in Journal of Inherited Metabolic Disease (1987)

  10. No Access

    Article

    Morphological observations in skeletal muscle from patients with a mitochondrial myopathy

    Mitochondrial metabolic dysfunction is considered to be the cause of certain congenital myopathies and a number of multisystem disorders in humans. The morphological hallmark of these diseases is the ‘ragged r...

    A. M. Stadhouders, R. C. A. Sengers in Journal of Inherited Metabolic Disease (1987)

  11. No Access

    Article

    Estimation of energy metabolism in human skeletal muscle homogenate as a diagnostic aid

    A method is presented for thein vitro testing of the energy metabolism of human skeletal muscle. The levels of creatine phosphate, ATP, ADP and AMP, which are defined by the activity of many enzyme systems, are m...

    W. Ruitenbeek, R. C. A. Sengers… in Journal of Inherited Metabolic Disease (1981)