Hepatic storage of glycogen in Niemann-Pick disease type B.
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.
Smith
W E
WE
Department of Pediatrics, Duke University Medical Center, DUMC 3528 Bell Building, Trent Dr., Durham, NC 27710, USA.
Kahler
S G
SG
Frush
D P
DP
Milov
D E
DE
Gottfried
M R
MR
Chen
Y T
YT
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*
D008112:Liver Glycogen