Monica Y. Niño

Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity

Monica Y. Niño, Stijn L.M. in ‘t Groen, Atze J. Bergsma et al. · Human Mutation · 2019 · 62 citations · Full text

Lysosomal Storage Disease, Genetics, Genetic Epidemiology +24

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

Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease

Monica Y. Niño, Heidi Mateus, Dora Janeth Fonseca et al. · JIMD Reports · 2012 · 13 citations · Full text