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195 results

Lentiviral gene therapy prevents anti-human acid α-glucosidase antibody formation in murine Pompe disease.

Liang Q, Vlaar EC, Catalano F, Pijnenburg JM, Stok M, van Helsdingen Y, Vulto AG, Unger WWJ, van der Ploeg AT, Pijnappel WWMP, van Til NP

Molecular therapy. Methods & clinical development, 2022 Jun 09

doi: 10.1016/j.omtm.2022.04.016

Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease.

Dimachkie MM, Barohn RJ, Byrne B, Goker-Alpan O, Kishnani PS, Ladha S, Laforêt P, Mengel KE, Peña LDM, Sacconi S, Straub V, Trivedi J, Van Damme P, van der Ploeg AT, Vissing J, Young P, Haack KA, Foster M, Gilbert JM, Miossec P, Vitse O, Zhou T, Schoser B,

Neurology, 2022 May 26

doi: 10.1212/WNL.0000000000200746

Mild disease course of SARS-CoV-2 infections and mild side effects of vaccination in Pompe disease: a cohort description.

Ismailova G, Mackenbach MJ, van den Hout JMP, van der Ploeg AT, Brusse E, Wagenmakers MAEM

Orphanet journal of rare diseases, 2022 03 04

doi: 10.1186/s13023-022-02268-y

Generation of Human iPSC-Derived Myotubes to Investigate RNA-Based Therapies In Vitro.

Herrero-Hernandez P, Bergsma AJ, Pijnappel WWMP

Methods in molecular biology (Clifton, N.J.), 2022

doi: 10.1007/978-1-0716-2010-6_15

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

Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening.

Lee NC, Chang KL, In 't Groen SLM, de Faria DOS, Huang HJ, Pijnappel WWMP, Hwu WL, Chien YH

The Journal of pediatrics, 2022 May

doi: S0022-3476(21)01279-8

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