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    Chapter

    Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?

    Advancements in genetic testing now allow early identification of previously unresolved neuromuscular phenotypes. To illustrate this, we here present diagnoses of glycogen storage disease IV (GSD IV) in two pa...

    Imre F. Schene, Christoph G. Korenke, Hidde H. Huidekoper… in JIMD Reports, Volume 45 (2019)

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    Article

    Haematopoietic stem cell transplantation in 12 patients with cerebral X-linked adrenoleukodystrophy

    In an attempt to elucidate prognostic factors, the data on 12 boys who underwent haematopoietic stem cell transplantation (HSCT) for cerebral X-linked adrenoleukodystrophy were evaluated. Two further patients...

    Matthias Baumann, Christoph G. Korenke… in European Journal of Pediatrics (2003)