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Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency

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  1. 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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  2. Article

    8 Neonatal Hyperammonemia Successfully Treated with Carbaglu® in a Neonate with N-Acetyl-Glutamate Syntase Deficiency

    Background: Neonatal hyperammonemia is often a sign of a severe urea cycle disorder with fatal outcome. With the introduction of Carbaglu® a new treatment option is available for neonatal hyperammonemia due to N-...

    J Alm, A Nordenström, B Hallberg, U von Döbeln, J Häberle in Pediatric Research (2004)

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  3. Article

    NEONATAL SCREENING FOR CONGENITAL ADRENAL HYPERPLASIA (CAH) USING 17-HYDROXYPROGESTERONE (17-OHP) ASSAYS OF DRIED BLOOD SPOTS

    Dried blood on filter paper collected on the 5th day of life was used to screen infants for CAH. A radioimmunoassay for 17-OHP without extraction with organic solvents was developed. The cut-off level was init...

    A Larsson, T Cursted, U von Döbeln, J Gustafsson, L Hagenfeldt… in Pediatric Research (1986)

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