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  1. Article

    Open Access

    De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

    Variants in CLCN4, which encodes the chloride/hydrogen ion exchanger CIC-4 prominently expressed in brain, were recently described to cause X-linked intellectual disability and epilepsy. We present detailed pheno...

    E E Palmer, T Stuhlmann, S Weinert, E Haan, H Van Esch, M Holvoet… in Molecular Psychiatry (2018)

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  2. No Access

    Article

    The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study

    This study aimed to evaluate the response to and safety of an 8-day course of sapropterin dihydrochloride (6R-tetrahydrobiopterin or 6R-BH4) 10 mg/kg per day in patients with phenylketonuria (PKU), who have eleva...

    B. K. Burton, D. K. Grange, A. Milanowski… in Journal of Inherited Metabolic Disease (2007)