Acid maltase deficiency: a case study and review of the pathophysiological changes and proposed therapeutic measures.
- 1 September 1986
- journal article
- review article
- Published by BMJ in Journal of Neurology, Neurosurgery & Psychiatry
- Vol. 49 (9) , 1011-1018
- https://doi.org/10.1136/jnnp.49.9.1011
Abstract
An adult patient with lysosomal acid alpha-glucosidase deficiency was fully investigated, and then placed on various forms of therapy with favourable response to a high protein, low carbohydrate diet. The rationale for the employment of this therapy, the problem of acid maltase deficiency and the relationship to weakness and glycogenosome formation with accumulation or otherwise of glycogen within the muscle fibres is discussed.This publication has 46 references indexed in Scilit:
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