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Journal of Inherited Metabolic Disease|February 8, 2023
Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disordersMarne C Hagemeijer, Jeroen C van den Bosch, Michiel Bongaerts, et al.
Metabolites|November 30, 2019
Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS PlatformRamon Bonte, Michiel Bongaerts, Serwet Demirdas, et al.
Neurogenetics|July 8, 2020
Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patientsShanice Beerepoot, Silvy J M van Dooren, Gajja S Salomons, et al.
Molecular Genetics and Metabolism Reports|August 21, 2023
<i>GAA</i> variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencingAnna Malekkou, Athina Theodosiou, Angelos Alexandrou, et al.
Brain : a Journal of Neurology|August 16, 2021
Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophyShanice Beerepoot, Hans Heijst, Birthe Roos, et al.
Molecular Therapy. Methods & Clinical Development|May 29, 2020
Lentiviral Hematopoietic Stem Cell Gene Therapy Corrects Murine Pompe DiseaseMerel Stok, Helen de Boer, Marshall W Huston, et al.
Metabolites|December 30, 2020
Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of MetabolismMichiel Bongaerts, Ramon Bonte, Serwet Demirdas, et al.
Orphanet Journal of Rare Diseases|February 3, 2022
Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe diseaseHarmke A van Kooten, Imke A M Ditters, Marianne Hoogeveen-Westerveld, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2026
Antibody formation and efficacy of enzyme replacement therapy in adults with Pompe disease: Unlocking long-term insightsMaudy T M Theunissen, Imke A M Ditters, Harmke A van Kooten, et al.
Molecular Therapy. Methods & Clinical Development|April 25, 2018
Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIERana Yadak, Raquel Cabrera-Pérez, Javier Torres-Torronteras, et al.
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