Abstract

ORTIZ GIRALDO, Blair; CORNEJO OCHOA, José William  and  ARANGO, Daniel. Pompe disease: clinical presentation in a Colombian family. Acta Neurol Colomb. [online]. 2011, vol.27, n.4, pp.231-236. ISSN 0120-8748.

Pompe disease (PD) is due to lisosomal enzyme acid Maltase or acid alpha-glucosidase deficit and clinically lies expressed such as a myopathy. The amount and quality of enzyme establish the variety of presentation. In the following report We show the way of debut, clinical characteristics, lab findings and the follow up of two cases evaluated with PD and We made a review of the literature.

Keywords : Myocardiopathy; Glycogen Storage Disease Type II; alpha-Glucosidases; Muscle Fatigue.

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