Douglas Oliveira Soares de Faria

Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease‐associated variants, common sequence variants, and results from newborn screening

Douglas Oliveira Soares de Faria, Stijn L. M. in't Groen, Marianne Hoogeveen‐Westerveld et al. · Human Mutation · 2020 · 44 citations · Full text

Genetics, Immunodeficiencies, Genetic Epidemiology +26

Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience

Monica Y. Niño, Mark Wijgerde, Douglas Oliveira Soares de Faria et al. · European Journal of Human Genetics · 2020 · 26 citations · Full text

Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis

Stijn L.M. in ‘t Groen, Douglas Oliveira Soares de Faria, Alessandro Iuliano et al. · Molecular Therapy — Methods & Clinical Development · 2020 · 24 citations · Full text

Novel GAA mutations in patients with Pompe disease

Lauro Thiago Turaça, Douglas Oliveira Soares de Faria, Sandra Obikawa Kyosen et al. · Gene · 2015 · 22 citations

Genetic Disorder, Inherited Metabolic Disease, Pathology +3