Paula Hernandez-Arevalo
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View article: Author response for "Accuracy diagnosis improvement of Fabry disease from dried blood spots: enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing"
Author response for "Accuracy diagnosis improvement of Fabry disease from dried blood spots: enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing" Open
View article: Author response for "Accuracy diagnosis improvement of Fabry disease from dried blood spots: enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing"
Author response for "Accuracy diagnosis improvement of Fabry disease from dried blood spots: enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing" Open
View article: Genotype-Phenotype correlation of 17 cases of Pompe Disease in Spanish Patients and Identification of 4 Novel Mutations
Genotype-Phenotype correlation of 17 cases of Pompe Disease in Spanish Patients and Identification of 4 Novel Mutations Open
Background: Pompe disease (PD) is an autosomal recessive metabolic disorder caused by mutations in the acid α-glucosidase gene ( GAA ) that produces defects in the lysosomal acid α-1,4-glucosidase. We aimed to identify genetic variations a…