Phosphorylase b kinase deficiency in a boy with glycogenosis affecting both liver and muscle
- 1 October 1989
- journal article
- research article
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 149 (1) , 52-53
- https://doi.org/10.1007/bf02024335
Abstract
A boy with marked hepatomegaly and motor weakness was investigated for glycogen storage disease. Glycogen accumulation was demonstrated in both liver and muscle and there was a deficiency of phosphorylase b kinase activity. On the basis of biochemical findings, an autosomal recessive mode of inheritance was considered likely, rather than the more common X-linked variant, with primarily liver involvement.This publication has 11 references indexed in Scilit:
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