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Bone marrow transplantation in glycogen storage disease type 1b

Germaine Pierre, Geothy Chakupurakal, Patrick McKiernan, Chris Hendriksz, Sarah Lawson, Anupam Chakrapani
Journal of Pediatrics 2008, 152 (2): 286-8
We report a case of glycogen storage disease type 1b that was successfully treated with bone marrow transplantation after life-threatening complications related to neutropenia and thrombocytopenia. Concomitant reduction in inflammatory bowel disease-related symptoms and improved metabolic stability were also observed.

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