Monica Y. Niño

Human Mutation

K. Fliessbach, M. Hüll, L. Frölich, 2017 .

Broad variation in phenotypes for common GAA genotypes in Pompe disease

W. Pijnappel, A. Bergsma, A. T. van der Ploeg, 2021, Human mutation.

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

W. Pijnappel, M. Kroos, A. Bergsma, 2019, Human mutation.

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

P. Laissue, M. Kroos, H. Mateus, 2013, JIMD reports.

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

W. Pijnappel, A. Bergsma, Mike Broeders, 2020, European Journal of Human Genetics.

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

W. Pijnappel, A. Bergsma, A. T. van der Ploeg, 2020, Human mutation.

Human Mutation

M. Kroos, A. Bergsma, Monica Y. Niño, 2019 .