title: Bone marrow transplantation in glycogen storage disease type 1b.
abstract: 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.
authors.affiliation: Department of Inherited Metabolic Disease, Birmingham Children's Hospital NHS Trust, Birmingham, United Kingdom.
authors.forename: Germaine
authors.initials: G
authors.lastname: Pierre
authors.forename: Geothy
authors.initials: G
authors.lastname: Chakupurakal
authors.forename: Patrick
authors.initials: P
authors.lastname: McKiernan
authors.forename: Chris
authors.initials: C
authors.lastname: Hendriksz
authors.forename: Sarah
authors.initials: S
authors.lastname: Lawson
authors.forename: Anupam
authors.initials: A
authors.lastname: Chakrapani
mesh_terms: D016026:Bone Marrow Transplantation / Q000379:methods*; D002648:Child; D003241:Consanguinity; D005952:Glucose-6-Phosphatase / Q000235:genetics; D005953:Glycogen Storage Disease Type I / Q000175:diagnosis / Q000628:therapy*; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009503:Neutropenia / Q000378:metabolism; D016896:Treatment Outcome
chemical_list: D005952:Glucose-6-Phosphatase