Publicaties - Centrum voor Lysosomale en Metabole Ziekten, Erasmus MC

Study Protocol of the Exercise Study: Unraveling Limitations for Physical Activity in Children With Chronic Diseases in Order to Target Them With Tailored Interventions-A Randomized Cross Over Trial.

Scheffers LE, Helbing WA, Utens EMWJ, Dieleman GC, Dulfer K, Noske J, van den Broek EA, Walet S, Olieman JF, Escher JC, Pijnenburg MW, van der Ploeg AT, van den Berg LE

Frontiers in pediatrics, 2021

doi: 10.3389/fped.2021.791701

Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease.

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

Orphanet journal of rare diseases, 2022 Feb 02

doi: 10.1186/s13023-022-02175-2

Diaphragmatic dysfunction in neuromuscular disease, an MRI study.

Harlaar L, Ciet P, van Tulder G, Brusse E, Timmermans RGM, Janssen WGM, de Bruijne M, van der Ploeg AT, Tiddens HAWM, van Doorn PA, van der Beek NAME

Neuromuscular disorders : NMD, 2021 Nov 09

doi: 10.1016/j.nmd.2021.11.001

Is the brain involved in patients with late-onset Pompe disease?

van den Dorpel JJA, van der Vlugt WMC, Dremmen MHG, Muetzel R, van den Berg E, Hest R, de Kriek J, Brusse E, van Doorn PA, van der Ploeg AT, van den Hout JMP, van der Beek NAME

Journal of inherited metabolic disease, 2021 Dec 20

doi: 10.1002/jimd.12469

Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.

Ditters IAM, Huidekoper HH, Kruijshaar ME, Rizopoulos D, Hahn A, Mongini TE, Labarthe F, Tardieu M, Chabrol B, Brassier A, Parini R, Parenti G, van der Beek NAME, van der Ploeg AT, van den Hout JMP,

The Lancet. Child & adolescent health, 2022 01

doi: 10.1016/S2352-4642(21)00308-4

Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial.

Schoser B, Roberts M, Byrne BJ, Sitaraman S, Jiang H, Laforêt P, Toscano A, Castelli J, Díaz-Manera J, Goldman M, van der Ploeg AT, Bratkovic D, Kuchipudi S, Mozaffar T, Kishnani PS,

The Lancet. Neurology, 2021 Dec

doi: 10.1016/S1474-4422(21)00331-8

Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial.

Diaz-Manera J, Kishnani PS, Kushlaf H, Ladha S, Mozaffar T, Straub V, Toscano A, van der Ploeg AT, Berger KI, Clemens PR, Chien YH, Day JW, Illarioshkin S, Roberts M, Attarian S, Borges JL, Bouhour F, Choi YC, Erdem-Ozdamar S, Goker-Alpan O, Kostera-Pruszczyk A, Haack KA, Hug C, Huynh-Ba O, Johnson J, Thibault N, Zhou T, Dimachkie MM, Schoser B,

The Lancet. Neurology, 2021 Dec

doi: 10.1016/S1474-4422(21)00241-6

Broad variation in phenotypes for common GAA genotypes in Pompe disease.

Niño MY, In't Groen SLM, de Faria DOS, Hoogeveen-Westerveld M, van den Hout HJMP, van der Ploeg AT, Bergsma AJ, Pijnappel WWMP

Human mutation, 2021 Nov

doi: 10.1002/humu.24272

An assay to quantify satellite cell activation using isolated mouse myofibers.

Canibano-Fraile R, Boertjes E, Bozhilova S, Pijnappel WWMP, Schaaf GJ

STAR protocols, 2021 Jun 18

doi: 10.1016/j.xpro.2021.100482

Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

de Faria DOS, 't Groen SLMI, Hoogeveen-Westerveld M, Nino MY, van der Ploeg AT, Bergsma AJ, Pijnappel WWMP

Human mutation, 2021 Feb

doi: 10.1002/humu.24148

Chest MRI to diagnose early diaphragmatic weakness in Pompe disease.

Harlaar L, Ciet P, van Tulder G, Pittaro A, van Kooten HA, van der Beek NAME, Brusse E, Wielopolski PA, de Bruijne M, van der Ploeg AT, Tiddens HAWM, van Doorn PA

Orphanet journal of rare diseases, 2021 01 07

doi: 10.1186/s13023-020-01627-x

Cardiovascular disease in non-classic Pompe disease: A systematic review.

van Kooten HA, Roelen CHA, Brusse E, van der Beek NAME, Michels M, van der Ploeg AT, Wagenmakers MAEM, van Doorn PA

Neuromuscular disorders : NMD, 2021 02

doi: 10.1016/j.nmd.2020.10.009

Publicaties Ziekte van Pompe