Neonatal type IV glycogen storage disease associated with “null” mutations in glycogen branching enzyme 1

Department of Medical Biology and Human Genetics, Innsbruck Medical University, and Departments of Pediatrics and Gastroenterology, University Hospital Innsbruck, Innsbruck; Institute of Pathology, Department of Pediatrics, Academic Teaching Hospital Feldkirch, Feldkirch, Austria; and Department of Pediatrics, University Hospital Freiburg, Germany.

Received 29 January 2004; received in revised form 8 June 2004; accepted 15 July 2004.

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