[Biological and physiopathological aspects of hepatic glycogenoses].
Liver glycogenosis (GSD) are hereditary diseases caused by deficiencies of the three major enzymatic systems involved in glycogenolysis: glucose-6-phosphatase (GSD I), debranching enzyme (GSD III) and phosphorylase system (GSD VI). Biological and physiopathological aspects of these disorders are described. An up to date diagnostic process which includes measurement of glycogen and enzymatic activities, in the most appropriate tissue material, is proposed.
Baussan
C
C
Laboratoire central de Biochimie, Hôpital Bicêtre, Le Kremlin-Bicêtre.
Moatti
N
N
Lemonnier
A
A
D006008:Glycogen Storage Disease / Q000378:metabolism* / Q000503:physiopathology; D006801:Humans; D008107:Liver Diseases / Q000378:metabolism* / Q000503:physiopathology
Aspects biologiques et physiopathologiques des glycogénoses hépatiques.