title: Hepatic storage of glycogen in Niemann-Pick disease type B.
abstract: We report 2 patients with confirmed Niemann-Pick disease, type B, with previous diagnoses of glycogen storage disease based on excessive glycogen on liver biopsy specimens. These cases emphasize the importance of a complete evaluation, including biochemical confirmation, for patients with suspected metabolic storage diseases.
authors.affiliation: Department of Pediatrics, Duke University Medical Center, DUMC 3528 Bell Building, Trent Dr., Durham, NC 27710, USA.
authors.forename: W E
authors.initials: WE
authors.lastname: Smith
authors.forename: S G
authors.initials: SG
authors.lastname: Kahler
authors.forename: D P
authors.initials: DP
authors.lastname: Frush
authors.forename: D E
authors.initials: DE
authors.lastname: Milov
authors.forename: M R
authors.initials: MR
authors.lastname: Gottfried
authors.forename: Y T
authors.initials: YT
authors.lastname: Chen
mesh_terms: D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006008:Glycogen Storage Disease / Q000175:diagnosis; D006801:Humans; D007223:Infant; D008099:Liver / Q000378:metabolism*; D008112:Liver Glycogen / Q000378:metabolism*; D008297:Male; D009542:Niemann-Pick Diseases / Q000175:diagnosis / Q000378:metabolism*
chemical_list: D008112:Liver Glycogen