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Eur J Pediatr. 1990 Jan;149(4):268-71.

The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients.

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1
Department of Paediatrics, University Hospital Groningen, The Netherlands.

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.

PMID:
2303074
[Indexed for MEDLINE]
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