Article
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.
Neuromuscular disorders : NMD - 1 Jan 2024
Martinez-Marin Rafael Jenaro, Reyes-Leiva David, Nascimento Andrés, Muelas Nuria, Dominguez-González C, Paradas Carmen, Olivé Montse, García-Romero Mar, Pascual-Pascual Samuel Ignacio, Grau Josep Maria, Barba-Romero Miguel Angel, Gomez-Caravaca Maria Teresa, de Las Heras Javier, Casquero Pilar, Mendoza Maria Dolores, de León Juan Carlos, Gutierrez Antonio, Morís Germán, Blanco-Lago Raquel, Ramos-Fransi Alba, Pintós Guillem, García-Antelo Maria José, Rabasa Maria, Morgado Yolanda, Usón Mercedes, Miralles Francisco Javier, Bárcena-Llona Jose Eulalio, Gómez-Belda Ana Belén, Pedraza-Hueso Maria Isabel, Hortelano Miryam, Colomé Antoni, Garcia-Martin Guillermina, Lopez de Munain Adolfo, Jericó Ivonne, Galán-Dávila Lucía, Pardo Julio, Salgueiro-Origlia Giorgina, Alonso-Pérez Jorge, Pla-Junca Francesc, Schiava Marianela, Segovia-Simón Sonia, Díaz-Manera Jordi
Abstract excerpt
Pompe disease is a rare genetic disorder with an estimated prevalence of 1:60.000. The two main phenotypes are Infantile Onset Pompe Disease (IOPD) and Late Onset Pompe Disease (LOPD). There is no published data from Spain regarding the existing number of cases, regional distribution, clinical features or, access and response to the treatment. We created a registry to collect all these data from patients with...
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