Genotype–phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants

by Paula Hernández-Arévalo, José D. Santotoribio, Rocío Delarosa-Rodríguez, Antonio González-Meneses, Salvador García-Morillo, Pilar Jiménez-Arriscado, Juan M. Guerrero, Hada C. Macher
Published 2021-05-01