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156 results

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

Transplantation as disease modifying therapy in the era of gene therapy medicinal products - health policy considerations.

Wagenmakers M, Lehman A, Hoed CD, Dussen LV, Langeveld M, Sirrs S

Orphanet journal of rare diseases, 2026 Aug 13

doi: 10.1186/s13023-026-04377-4

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

Letter to the Editor-Comment on "Erythropoietic Protoporphyria and Surgery: A Case of Successful Mastectomy With Perioperative Light Shielding Strategies Based on Light-Induced Hemolytic Threshold Assessment".

de Rover I, Peltenburg NC, Sweep JCM, Langendonk JG

The Journal of dermatology, 2026 Jul 22

doi: 10.1111/1346-8138.70386

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

Treating a patient with ADP porphyria through suppression of both hepatic and erythroid ALA production.

Veldhoen NC, Peltenburg NC, van Beers EJ, Friesema ECH, Langendonk JG

Orphanet journal of rare diseases, 2026 Jul 13

doi: 10.1186/s13023-026-04470-8

Toward standardized care: International expert survey on pregnancy management in long-chain fatty acid oxidation disorders and unmet needs.

Zeyer KA, Derks TGJ, Langeveld M, Murphy E, Rossi A, Spiekerkoetter U, Wagenmakers M, Grünert SC,

Molecular genetics and metabolism, 2026 Jul 05

doi: S1096-7192(26)00483-X

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