Enfermedad de Pompe: descripción de las características clínicas y de laboratorio de una familia colombiana
Copyright policy )Enfermedad de Pompe: descripción de las características clínicas y de laboratorio de una familia colombiana
ABSTRACT: 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 literatur
RESUMEN: La enfermedad de Pompe (EP) es debida a la deficiencia de la enzima lisosomal maltasa ácida o alfa glucosidasa ácida (AGA) y se manifiesta clínicamente como una miopatía. La cantidad y calidad de la enzima determinan la variedad de presentación. A continuación se presentan las formas de debut, características clínicas, hallazgos de laboratorio y evolución de dos casos evaluados con EP.
COL0058784
- Universidad de Antioquia, Sistema de Bibliotecas Colombia
- University of Antioquia Colombia
Enfermedad del Almacenamiento de Glucógeno Tipo II, Glycogen Storage Disease Type II, Terapia de Reemplazo Enzimático, Maltasa Acida, 610, alpha-Glucosidases, Insuficiencia Respiratoria, alfa-Glucosidasas, Muscle Fatigue, Fatiga Muscular (DeCS), Fatiga Muscular, Enzyme Replacement Therapy, Neurology. Diseases of the nervous system, Enfermdad de Pompe, Respiratory Insufficiency, RC346-429
Enfermedad del Almacenamiento de Glucógeno Tipo II, Glycogen Storage Disease Type II, Terapia de Reemplazo Enzimático, Maltasa Acida, 610, alpha-Glucosidases, Insuficiencia Respiratoria, alfa-Glucosidasas, Muscle Fatigue, Fatiga Muscular (DeCS), Fatiga Muscular, Enzyme Replacement Therapy, Neurology. Diseases of the nervous system, Enfermdad de Pompe, Respiratory Insufficiency, RC346-429
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