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  1. Article

    Open Access

    International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up

    Classical galactosemia (CG) is an inborn error of galactose metabolism. Evidence-based guidelines for the treatment and follow-up of CG are currently lacking, and treatment and follow-up have been demonstrated...

    Lindsey Welling, Laurie E. Bernstein… in Journal of Inherited Metabolic Disease (2017)

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    Chapter

    Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis

    Introduction: Previous studies have reported an association between classic galactosemia (CG) and decreased bone mass. The primary objective of this systematic review with meta-analysis was to determine the ex...

    Britt van Erven, Lindsey Welling, Sandra C. van Calcar… in JIMD Reports, Volume 35 (2017)

  3. Article

    Novel Mutations in the PEX2 Gene of Four Unrelated Patients with a Peroxisome Biogenesis Disorder

    The peroxisome biogenesis disorders (PBDs) form a genetically and clinically heterogeneous group of disorders due to defects in at least 11 distinct genes. The prototype of this group of disorders is Zellweger...

    Jeannette Gootjes, Orly Elpeleg, François Eyskens, Hanna Mandel… in Pediatric Research (2004)

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    Chapter and Conference Paper

    Peroxisome Mosaics

    Peroxisome mosaics are livers (Fig. 1) that display cells with normal peroxisomes (Px) adjacent to cells that resemble Zellweger hepatocytes, i.e. catalase and AGT are in the cytoplasm, and macrophages contain...

    Frank Roels, Jean-Marie Saudubray… in Peroxisomal Disorders and Regulation of Ge… (2003)