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Ans T. van der Ploeg

Erasmus University Medical Center

18

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246

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Broad variation in phenotypes for common GAA genotypes in Pompe disease.

2021 Human Mutation
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Novel GAA variants and mosaicism in Pompe disease identified by extended analyses of patients with an incomplete DNA diagnosis

2020 Molecular therapy. Methods & clinical development
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Update of the Pompe variant database for the prediction of clinical phenotypes: novel disease‐associated variants, common sequence variants, and results from newborn screening

2020 Human Mutation
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Ready for repair? Gene editing enters the clinic for the treatment of human disease.

2020 Molecular therapy. Methods & clinical development
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A genetic modifier of symptom onset in Pompe disease

2019 EBioMedicine
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Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity

2019 Human Mutation
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Large-Scale Expansion of Human iPSC-Derived Skeletal Muscle Cells for Disease Modeling and Cell-Based Therapeutic Strategies

2018 Stem cell reports
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GAA deficiency in Pompe disease is alleviated by exon inclusion in iPS cell-derived skeletal muscle cells

2018
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First-in-human Study of ATB200/AT2221 in Patients with Pompe Disease: Preliminary Results From the ATB200-02 Trial (S22.003)

2018 Neurology
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Is BRIEF a useful instrument in day to day care of patients with phenylketonuria

2015 Molecular Genetics and Metabolism
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Citations (6)