Glycogen storage disease type IB.
During the past decade, several cases of glycogen storage disease (GSD) type IB have been reported. However, there has not been a detailed morphologic description of this entity to date. We studied GSD type IB in two siblings, of which one case was enzymatically proved. We compared light and electron microscopic observations with those of GSD type I.
D003593:Cytoplasm / Q000473:pathology; D005952:Glucose-6-Phosphatase / Q000378:metabolism; D006008:Glycogen Storage Disease / Q000201:enzymology / Q000235:genetics / Q000473:pathology*; D006651:Histocytochemistry; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008099:Liver / Q000201:enzymology / Q000473:pathology / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron
D005952:Glucose-6-Phosphatase