1. Guía clínica de la enfermedad de Pompe infantil
- Author
-
Samuel I. Pascual-Pascual, C Medrano-Lopez, S Manrique-Rodriguez, E Villalobos-Pinto, M Ley, A Nascimento, M Martinez-Moreno, C M Fernandez-Llamazares, and J Blasco-Alonso
- Subjects
Pediatrics ,medicine.medical_specialty ,business.industry ,030503 health policy & services ,Diagnostico diferencial ,MEDLINE ,First year of life ,General Medicine ,Disease ,Enzyme replacement therapy ,03 medical and health sciences ,0302 clinical medicine ,Medicine ,030212 general & internal medicine ,Neurology (clinical) ,Infantile onset ,Age of onset ,Stage (cooking) ,0305 other medical science ,business - Abstract
Infantile-onset Pompe disease has a fatal prognosis in the short term unless it is diagnosed at an early stage and enzyme replacement therapy is not started as soon as possible. A group of specialists from different disciplines involved in this disease have reviewed the current scientific evidence and have drawn up an agreed series of recommendations on the diagnosis, treatment and follow-up of patients. We recommend establishing enzyme treatment in any patient with symptomatic Pompe disease with onset within the first year of life, with a clinical and enzymatic diagnosis, and once the CRIM (cross-reactive immunological material) status is known.
- Published
- 2016
- Full Text
- View/download PDF