Publicaties - Centrum voor Lysosomale en Metabole Ziekten, Erasmus MC

Central nervous system histopathological findings in classic infantile Pompe disease: a systematic review with clinical relevance.

van den Dorpel JJA, Faraguna MC, Verdijk RM, van der Beek NAME, Pijnappel WWMP, van der Ploeg AT, van den Hout JMP

Journal of neurology, 2026 Jul 31

Author Correction: Domain-substituted IGF2 tag modulates targeting of lentiviral gene therapy for Hunter syndrome.

Catalano F, Stevic D, Zundo G, Huizer TF, Dammou Z, Vlaar EC, Katsavelis D, van den Bosch JC, van den Hout HJMP, Oussoren E, van der Ploeg AT, Ruijter GJG, Schaaf G, Pijnappel WWMP

EMBO molecular medicine, 2026 Jul 29

doi: 10.1038/s44321-026-00492-8

Home Infusion With Recombinant Human α-Glucosidase in Children With Pompe Disease: The Dutch Experience Over 20 Years Across the Spectrum From Classic Infantile to Late-Onset Phenotypes.

Ditters IAM, Huidekoper HH, Hardon JF, Kruijshaar ME, van der Ploeg AT, van den Hout JMP

BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy, 2026 Jul 20

doi: 10.1007/s40259-026-00773-1

Bayesian multivariate linear mixed-effects models with varied association structures.

Lika A, Rizopoulos D, Kruijshaar ME, van der Ploeg AT, Andrinopoulou ER

Statistical methods in medical research, 2026 Jun 30

doi: 10.1177/09622802261455689

Managing Pompe Disease and Enzyme Replacement Therapy During Pregnancy: Challenges and Considerations.

Theunissen MTM, Hayat Z, Bouhour F, van den Hout JMP, Noury JB, Lagrange E, Jouy A, Taouagh N, van Doorn PA, van der Ploeg AT, Laforêt P, van der Beek NAME

European journal of neurology, 2026 Jun

doi: 10.1111/ene.70648

Quantitative Muscle MRI of the Lower Extremities Reveals Different Patterns of Involvement in Classic Infantile and Young Late-Onset Pompe Patients.

van den Dorpel JJA, Guldemond ME, Keene KR, van Doorn PA, van der Ploeg AT, van den Hout JMP, Kan HE, van der Beek NAME

Journal of inherited metabolic disease, 2026 Jul

doi: 10.1002/jimd.70209

Unfavorable cardiovascular risk profile without increased event prevalence in late-onset Pompe disease: an individually matched cohort study.

van Kooten HA, van Zoest D, Michels M, van der Beek NAME, Brusse E, van der Ploeg AT, Langendonk JG, van Doorn PA, Wagenmakers MAEM

Orphanet journal of rare diseases, 2026 May 27

doi: 10.1186/s13023-026-04400-8

Population Pharmacokinetic/Pharmacodynamic Modeling of Therapeutic Enzymes in Lysosomal Storage Diseases.

Barzel I, van der Ploeg AT, Pijnappel WWMP, van der Kuy PHM, van den Hout JMP, Preijers T

Clinical pharmacokinetics, 2026 May 08

doi: 10.1007/s40262-026-01636-2

Teriparatide in Two Patients With Mucopolysaccharidosis Type IVB.

Wijnen M, van Velsen EFS, Milhous JG, Oussoren E, van der Eerden BCJ, Wagenmakers MAEM

JIMD reports, 2026 May

doi: 10.1002/jmd2.70088

Antibody formation and efficacy of enzyme replacement therapy in adults with Pompe disease: Unlocking long-term insights.

Theunissen MTM, Ditters IAM, van Kooten HA, van Doorn PA, van den Hout JMP, Hoogeveen-Westerveld M, Jacobs EH, van der Ploeg AT, van der Beek NAME

Genetics in medicine : official journal of the American College of Medical Genetics, 2026 Apr 13

doi: S1098-3600(26)00896-8

Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe disease.

Hopkin RJ, Byrne BJ, Dimachkie MM, Kishnani PS, Mozaffar T, Roberts M, Schoser B, van der Beek NAME, van der Ploeg AT, Wenninger S, Brudvig J, Fox B, Holdbrook F, Jain V, Johnson F, Zhang J, Parenti G

Therapeutic advances in rare disease, 2026

doi: 10.1177/26330040261425686

Insights into immunogenicity and therapeutic strategies to mitigate the immune response in infantile-onset Pompe disease: a comprehensive systematic literature review.

Kishnani PS, Van Den Hout JMP, Hahn A, Kronn D, Chien YH, Han M, Heuterman J, Sparks S, Glen C, Daba N

Frontiers in immunology, 2025

doi: 10.3389/fimmu.2025.1690312

Publicaties Lysosomale stapelingsziekten