Browsing Investigaciones en la CCSS by Author "Rodríguez Roblero, María Consuelo"
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First clinical and genetic description of a family diagnosed with late-onset Pompe disease from Costa Rica
Rodríguez Roblero, María Consuelo; Torrealba Acosta, Gabriel; Bogantes Ledezma, Sixto; Carazo Céspedes, Kenneth; Desnuelle, Claude (2017)Glycogen storage disease type II, also known as Pompe disease, is an autosomal recessive disorder caused by deficiency of enzymatic activity of acid alpha-glucosidase. The wide phenotypical variation of this disease relates ...