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  1. No Access

    Article

    Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder

    Congenital disorders of glycosylation (CDG) represent a group of inherited multiorgan diseases caused by defects in the biosynthesis of glycoproteins. We report on two dysmorphic siblings with severe liver dis...

    L. J. M. Spaapen, J. A. Bakker… in Journal of Inherited Metabolic Disease (2005)

  2. No Access

    Article

    Clinical outcome and long-term management of 17 patients with propionic acidaemia

    A retrospective study was performed on the clinical outcome and long-term treatment of 17 patients with propionic acidaemia diagnosed during the last 20 years in our hospital. The study group consisted of 12 p...

    S. B. van der Meer, F. Poggi, M. Spada, J. P. Bonnefont… in European Journal of Pediatrics (1996)

  3. No Access

    Article

    Failure to detect phenylketonuria

    P. H. Verkerk, S. B. van der Meer in European Journal of Pediatrics (1995)

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    Article

    Helicobacter pylori positivity

    U. Blecker, Y. Vandenplas, S. B. van der Meer… in European Journal of Pediatrics (1993)

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    Article

    The prevalence of Helicobacter pylori serum antibodies in children with recurrent abdominal pain

    As part of a large, prospective study we investigated the prevalenceHelicobacter pylori serum antibodies in children with recurrent abdominal pain (RAP). All patients suffered from recurrent bouts of abdominal pa...

    S. B. van der Meer, P. P. Forget, R. J. L. F. Loffeld… in European Journal of Pediatrics (1992)