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  1. No Access

    Article

    A therapeutic trial withN-acetylcysteine in subjects with hereditary glutathione synthetase deficiency (5-oxoprolinuria)

    In a therapeutic trial, the effect of short-term low-dosageN-acetylcysteine supplementation on glutathione metabolism was investigated in two patients with hereditary glutathione deficiency (5-oxoprolinuria). Cli...

    J. Mårtensson M.D., Ph.D., J. Gustafsson… in Journal of Inherited Metabolic Disease (1989)

  2. No Access

    Article

    Increased lipolysis in LCHAD deficiency

    An increasing number of fatty acid oxidation defects are being detected owing to diagnostic improvements and a greater awareness among clinicians. The metabolic block leads to energy disruption, fatty infiltra...

    M. U. Halldin, A. Forslund, U. von Döbeln… in Journal of Inherited Metabolic Disease (2007)

  3. Article

    Erratum to: Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast

    C. Bieneck Haglind, A. Nordenström, S. Ask… in Journal of Inherited Metabolic Disease (2015)

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  4. No Access

    Article

    Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast

    Children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) have a defect in the degradation of long-chain fatty acids and are at risk of hypoketotic hypoglycemia and insufficient energy produc...

    C. Bieneck Haglind, A. Nordenström, S. Ask… in Journal of Inherited Metabolic Disease (2015)