Acid maltase deficiency: a case study and review of the pathophysiological changes and proposed therapeutic measures.

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… (More)

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