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  1. No Access

    Article

    Carnitine–acylcarnitine carrier deficiency: Identification of the molecular defect in a patient

    M. Huizing, U. Wendel, W. Ruitenbeek… in Journal of Inherited Metabolic Disease (1998)

  2. No Access

    Article

    Favourable clinical course in an infant with severe deficiency of complex III of the respiratory chain combined with less severe deficiencies of complexes I, II and IV

    An infant with severe deficiency of complex III combined with less severe deficiencies of complexes I, II and IV of the mitochondrial respiratory chain in skeletal muscle tissue presented with intra-uterine g...

    M. E. Rubio-Gozalbo, W. Ruitenbeek, H. A. C. M. Bentlage… in European Journal of Pediatrics (1997)

  3. No Access

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    Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism

    Point mutations in mitochondrial DNA, as found in MELAS, MERRF, NARP and other syndromes, are inherited via the maternal lineage. Genetic counselling can be beneficial, but prenatal diagnosis is not advantageo...

    W. Ruitenbeek, U. Wendel, B. C. J. Hamel… in Journal of Inherited Metabolic Disease (1996)

  4. 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)

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    Article

    Neonatal De Toni-Debré-Fanconi syndrome due to a defect in complex III of the respiratory chain

    A patient with neonatal expression of severe De Toni-Debré-Fanconi syndrome is presented. Because of early signs of renal tubulopathy together with a large urinary excretion of lactate, 3-hydroxybutyrate and c...

    U. Wendel, W. Ruitenbeek, H. A. C. M. Bentlage… in European Journal of Pediatrics (1995)

  6. No Access

    Article

    Preface

    Alessandro Giacomello, G. J. Peters, Staffan Eriksson… in Pharmacy World and Science (1995)

  7. No Access

    Article

    Isolated mitochondria from frozen muscle have limited value in diagnostics

    H. R. Scholte, J. M. F. Trijbels, D. A. Applegarth… in European Journal of Pediatrics (1995)

  8. No Access

    Article

    Royal academy of medicine in Ireland international conference on homocysteine metabolism from basic science to clinical medicine

    K. Björkegren, C. Bergmark, U. de Faire… in Irish Journal of Medical Science (1995)

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    Chapter

    Intracellular Pharmacology and Biochemistry of Methotrexate and 6-Mercaptopurine in Childhood Acute Lymphoblastic Leukemia

    After treatment with methotrexate (MTX), 6-mercaptopurine (6MP) demonstrated a synergistic effect and an enhanced incorporation into DNA and RNA in human lymphoblastic cell lines1.

    C. W. Keuzenkamp-Jansen, J. P. M. Bökkerink… in Purine and Pyrimidine Metabolism in Man VI… (1994)

  10. No Access

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    Effect of various regimens of vitamin B6 and folic acid on mild hyperhomocysteinaemia in vascular patients

    D. G. Franken, G. H. J. Boers, H. J. Blom… in Journal of Inherited Metabolic Disease (1994)

  11. No Access

    Article

    Abstracts of papers Pharmacological Meeting

    W. A. Bax, P. R. Saxena, Gerreke Ph. Biewenga, Jan de Jong… in Pharmacy World and Science (1993)

  12. No Access

    Article

    Abstracts of oral presentations

    R. Boulieu, A. Lenoir, J. F. Mornex, C. Bohman, J. Balzarini… in Pharmacy World and Science (1993)

  13. No Access

    Article

    Cerebrospinal fluid amino acids, purines and pyrimidines as a tool in the study of metabolic brain diseases

    After establishing more extended reference values for amino acids, purines and pyrimidines in cerebrospinal fluid (CSF) in infancy and childhood, we studied 1250 CSF-aliquots from patients who were undergoing ...

    G. P. J. M. Gerrits, L. A. H. Monnens… in Journal of Inherited Metabolic Disease (1993)

  14. No Access

    Article

    Enzymological versus DNA investigations in mitochondrial (encephalo-)myopathies

    D. D. de Vries, W. Ruitenbeek, I. J. de Wijs… in Journal of Inherited Metabolic Disease (1993)

  15. No Access

    Article

    Cerebrospinal fluid homocysteine and the cobalamin status of the brain

    H. J. Blom, R. A. Wevers, A. Verrips… in Journal of Inherited Metabolic Disease (1993)

  16. No Access

    Article

    Problems with the biochemical diagnosis in mitochondrial (encephalo-)myopathies

    Patients suffering from a mitochondrial (encephalo-)myopathy have a remarkable clinical heterogeneity. A reliable and extensive investigation must be performed in order to obtain a correct diagnosis, but many ...

    J. M. F. Trijbels, H. R. Scholte, W. Ruitenbeek… in European Journal of Pediatrics (1993)

  17. 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)

  18. 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)

  19. No Access

    Article

    3-methylglutaconic aciduria in a patient with a disturbed mitochondrial energy metabolism

    J. A. J. M. Bakkeren, R. C. A. Sengers, W. Ruitenbeek… in European Journal of Pediatrics (1992)

  20. No Access

    Article

    Combined deficiencies of the pyruvate dehydrogenase complex and enzymes of the respiratory chain in mitochondrial myopathies

    In six patients with mitochondrial (encephalo-) myopathy investigations of skeletal muscle revealed a defect of pyruvate dehydrogenase complex (PDHC) in combination with one or more respiratory chain complex d...

    W. Sperl, W. Ruitenbeek, R. C. A. Sengers… in European Journal of Pediatrics (1992)

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