Genotypephenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants

por Hernndez-Arvalo, Paula, Santotoribio, Jos D., Delarosa-Rodrguez, Roco, Gonzlez-Meneses, Antonio, Garca-Morillo, Salvador, Jimnez-Arriscado, Pilar, Guerrero, Juan M., Macher, Hada C.
Publicado 2021