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Publicaties Ziekte van Pompe

195 resultaten

Neurofilament Light and Its Association With CNS Involvement in Patients With Classic Infantile Pompe Disease.

Mackenbach MJ, Willemse EAJ, van den Dorpel JJA, van der Beek NAME, Díaz-Manera J, Rizopoulos D, Teunissen C, van der Ploeg AT, van den Hout JMP

Neurology, 2023 Jun 19

doi: 10.1212/WNL.0000000000207482

Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions.

Ditters IAM, van Kooten HA, van der Beek NAME, Hardon JF, Ismailova G, Brusse E, Kruijshaar ME, van der Ploeg AT, van den Hout JMP, Huidekoper HH

BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy, 2023 Jun 16

doi: 10.1007/s40259-023-00609-2

Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study.

Ditters IAM, van der Beek NAME, Brusse E, van der Ploeg AT, van den Hout JMP, Huidekoper HH

Orphanet journal of rare diseases, 2023 May 08

doi: 10.1186/s13023-023-02715-4

Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial.

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

JAMA neurology, 2023 Apr 10

doi: 10.1001/jamaneurol.2023.0552

Physical training and high protein diet improved muscle strength, parent-reported fatigue and physical quality of life in children with Pompe disease.

Scheffers LE, Somers OC, Dulfer K, Dieleman GC, Walet S, van der Giessen LJ, Ploeg AT, van den Hout JMP, van den Berg LE,

Journal of inherited metabolic disease, 2023 Apr 01

doi: 10.1002/jimd.12607

Association between changes in pulmonary function and in patient reported outcomes during enzyme therapy of adult patients with late-onset Pompe disease".

Lika A, Andrinopoulou ER, van der Beek NAME, Rizopoulos D, van der Ploeg AT, Kruijshaar ME

Journal of inherited metabolic disease, 2023 Mar 26

doi: 10.1002/jimd.12606

Effects of enzyme replacement therapy on cardiac function in classic infantile Pompe disease.

Scheffers LE, Kok R, van den Berg LE, van den Hout JMP, Boersma E, van Capelle CI, Helbing WA, van der Ploeg AT, Koopman LP

International journal of cardiology, 2023 Mar 08

doi: 10.1016/j.ijcard.2023.03.010

Diffusion tensor imaging of the brain in Pompe disease.

van den Dorpel JJA, Dremmen MHG, van der Beek NAME, Rizopoulos D, van Doorn PA, van der Ploeg AT, Muetzel RL, van den Hout JMP

Journal of neurology, 2022 Dec 08

doi: 10.1007/s00415-022-11506-z

Prenatal Enzyme-Replacement Therapy.

van der Ploeg AT

The New England journal of medicine, 2022 Nov 09

doi: 10.1056/NEJMe2211515

IGF2-tagging of GAA promotes full correction of murine Pompe disease at a clinically relevant dosage of lentiviral gene therapy.

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

Molecular therapy. Methods & clinical development, 2022 Dec 08

doi: 10.1016/j.omtm.2022.09.010

Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism.

Canibano-Fraile R, Harlaar L, Dos Santos CA, Hoogeveen-Westerveld M, Demmers JAA, Snijders T, Lijnzaad P, Verdijk RM, van der Beek NAME, van Doorn PA, van der Ploeg AT, Brusse E, Pijnappel WWMP, Schaaf GJ

Journal of inherited metabolic disease, 2022 Sep 16

doi: 10.1002/jimd.12560

MRI changes in diaphragmatic motion and curvature in Pompe disease over time.

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

European radiology, 2022 Jul 13

doi: 10.1007/s00330-022-08940-y