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Publicaties Ziekte van Pompe

195 resultaten

Discontinuation of enzyme replacement therapy in adults with Pompe disease: Evaluating the European POmpe Consortium stop criteria.

van Kooten HA, Harlaar L, van der Beek NAME, van Doorn PA, van der Ploeg AT, Brusse E,

Neuromuscular disorders : NMD, 2020 01

doi: 10.1016/j.nmd.2019.11.007

Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease.

Harlaar L, Hogrel JY, Perniconi B, Kruijshaar ME, Rizopoulos D, Taouagh N, Canal A, Brusse E, van Doorn PA, van der Ploeg AT, Laforêt P, van der Beek NAME

Neurology, 2019 11 05

doi: 10.1212/WNL.0000000000008441

Restoring the regenerative balance in neuromuscular disorders: satellite cell activation as therapeutic target in Pompe disease.

Schaaf GJ, Canibano-Fraile R, van Gestel TJM, van der Ploeg AT, Pijnappel WWMP

Annals of translational medicine, 2019 Jul

doi: 10.21037/atm.2019.04.48

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Reuser AJJ, van der Ploeg AT, Chien YH, Llerena J, Abbott MA, Clemens PR, Kimonis VE, Leslie N, Maruti SS, Sanson BJ, Araujo R, Periquet M, Toscano A, Kishnani PS, On Behalf Of The Pompe Registry Sites

Human mutation, 2019 11

doi: 10.1002/humu.23878

Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.

Niño MY, In 't Groen SLM, Bergsma AJ, van der Beek NAME, Kroos M, Hoogeveen-Westerveld M, van der Ploeg AT, Pijnappel WWMP

Human mutation, 2019 11

doi: 10.1002/humu.23854

A genetic modifier of symptom onset in Pompe disease.

Bergsma AJ, In 't Groen SLM, van den Dorpel JJA, van den Hout HJMP, van der Beek NAME, Schoser B, Toscano A, Musumeci O, Bembi B, Dardis A, Morrone A, Tummolo A, Pasquini E, van der Ploeg AT, Pijnappel WWMP

EBioMedicine, 2019 May

doi: 10.1016/j.ebiom.2019.03.048

Effects of immunomodulation in classic infantile Pompe patients with high antibody titers.

Poelman E, Hoogeveen-Westerveld M, van den Hout JMP, Bredius RGM, Lankester AC, Driessen GJA, Kamphuis SSM, Pijnappel WWM, van der Ploeg AT

Orphanet journal of rare diseases, 2019 03 22

doi: 10.1186/s13023-019-1039-z

Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study.

Pena LDM, Barohn RJ, Byrne BJ, Desnuelle C, Goker-Alpan O, Ladha S, Laforêt P, Mengel KE, Pestronk A, Pouget J, Schoser B, Straub V, Trivedi J, Van Damme P, Vissing J, Young P, Kacena K, Shafi R, Thurberg BL, Culm-Merdek K, van der Ploeg AT,

Neuromuscular disorders : NMD, 2019 03

doi: 10.1016/j.nmd.2018.12.004

The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease.

Kuperus E, van der Meijden JC, In 't Groen SLM, Kroos MA, Hoogeveen-Westerveld M, Rizopoulos D, Martinez MYN, Kruijshaar ME, van Doorn PA, van der Beek NAME, van der Ploeg AT, Pijnappel WWMP

PloS one, 2018

doi: 10.1371/journal.pone.0208854

Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease.

Schaaf GJ, van Gestel TJM, In 't Groen SLM, de Jong B, Boomaars B, Tarallo A, Cardone M, Parenti G, van der Ploeg AT, Pijnappel WWMP

Acta neuropathologica communications, 2018 11 07

doi: 10.1186/s40478-018-0620-3

Association of Muscle Strength and Walking Performance in Adult Patients With Pompe Disease.

Favejee MM, van der Meijden JC, Kruijshaar ME, Rizopoulos D, van der Ploeg AT, Bussmann JBJ

Physical therapy, 2018 11 01

doi: 10.1093/ptj/pzy090

Cardiac outcome in classic infantile Pompe disease after 13 years of treatment with recombinant human acid alpha-glucosidase.

van Capelle CI, Poelman E, Frohn-Mulder IM, Koopman LP, van den Hout JMP, Régal L, Cools B, Helbing WA, van der Ploeg AT

International journal of cardiology, 2018 Oct 15

doi: 10.1016/j.ijcard.2018.07.091