ISSN:
1432-1076
Keywords:
Liver glycogenosis
;
Phosphorylase kinase
;
Phosphorylase
;
Longitudinal study
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract We report a longitudinal study of 41 patients with liver glycogenosis due to phosphorylase kinase deficiency. In their youth, patients displayed hepatomegaly (92%), growth retardation (68%), delayed motor development (52%), hypercholesterolaemia (76%), hypertriglyceridaemia (70%), elevation of glutamate pyruvate transaminase (56%) and fasting hyperketosis (44%). With age, these clinical and biochemical abnormalities gradually disappeared and most adult patients were asymptomatic.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF02106291
Permalink