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  1. No Access

    Article

    Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III

    We report three siblings with Gaucher disease type III, born between 1992 and 2004. During this period, new developments resulted in different potential therapies, changing clinical practice. The two eldest si...

    J. Cox-Brinkman, M. J. van Breemen… in Journal of Inherited Metabolic Disease (2008)

  2. No Access

    Article

    The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots

    The 625G>A variant of the short-chain acyl-CoA dehydrogenase (SCAD) gene is considered to confer susceptibility for develo** ‘clinical SCAD deficiency’ and appears to be common in the general population. To ...

    B. T. van Maldegem, H. R. Waterham, M. Duran… in Journal of Inherited Metabolic Disease (2005)