Publicaties - Centrum voor Lysosomale en Metabole Ziekten, Erasmus MC

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

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

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

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

The urine metabolomic signature of distal diuretics and diuretic-induced hyponatremia in patients with chronic kidney disease.

Rudolphi CF, Musterd-Bhaggoe U, Ruijter GJG, Hoorn EJ, Imenez Silva PH

American journal of physiology. Renal physiology, 2026 Apr 10

doi: 10.1152/ajprenal.00431.2025

Too Much of a Good Thing.

Wijnen M, Peltenburg NC, Augustijn D, Wagenmakers MAEM, Langendonk JG

The New England journal of medicine, 2026 Apr 02

doi: 10.1056/NEJMcps2510060

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 Metabole ziekten