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Publicaties Lysosomale stapelingsziekten

131 resultaten

The Effect of Anti-drug Antibodies on the Bioavailability of Alglucosidase Alfa in Classic Infantile Pompe Disease.

Faraguna MC, Lambregts DAM, Barzel I, Jacobs EH, Hoogeveen-Westerveld M, van der Beek NAME, Pijnappel WWMP, Gasperini S, Preijers T, van den Hout JMP, van der Ploeg AT

BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy, 2026 Sep 11

doi: 10.1007/s40259-026-00802-z

Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis (MPS) Type II: Results of up to 14 Years of Follow-Up.

Holdorp JJ, Kruijshaar MEM, Vollebregt AAMA, Rietman ABA, Dijkstra MRKM, Klees CC, Wagenmakers MM, Nguyen AHPA, Oussoren EE, van der Ploeg ATA, van den Hout JMPH

Journal of inherited metabolic disease, 2026 Sep

doi: 10.1002/jimd.70246

Epilepsy Is Part of the CNS Phenotype in Classic Infantile Pompe Disease.

Faraguna MC, Broomfield A, Gasperini S, Chien YH, Chen HA, Muschol NM, Amartino HM, Kullmann GA, Procopio E, Menni F, Deodato F, van der Ploeg AT, Hahn A, Van Den Hout JMP

Neurology. Genetics, 2026 Oct

doi: 10.1212/NXG.0000000000200432

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

doi: 10.1007/s00415-026-13991-y

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

Fibro-adipogenic progenitors enhance functional and structural properties of human 3D tissue engineered skeletal muscles.

Augustinus R, de Ridder LA, Zheng D, Franken M, Balog J, van der Vliet PJ, Iuliano A, Goossens R, Hamel JI, Pijnappel WWMP, de Greef JC, van der Maarel SM

Journal of tissue engineering, 2026

doi: 10.1177/20417314261441552