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148 results

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

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, LaforĂȘt 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

Clinical Characteristics and Outcomes of Acute Intermittent Porphyria: Insights From the European Porphyria Registry.

Baravelli CM, Sandberg S, Hammersland MH, Harper P, Badminton MN, Aguilera P, Cassiman D, Deybach JC, Di Pierro E, Graziadei G, Langendonk JG, Marcacci M, Sardh E, Schmitt C, To-Figueras J, Ventura P, Aarsand AK

Liver international : official journal of the International Association for the Study of the Liver, 2026 May

doi: 10.1111/liv.70615

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