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Publicaties Ziekte van Pompe

195 resultaten

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

A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease.

Bergsma AJ, In 't Groen SLM, Catalano F, Yamanaka M, Takahashi S, Okumiya T, van der Ploeg AT, Pijnappel WWMP

European journal of human genetics : EJHG, 2021 03

doi: 10.1038/s41431-020-00751-3

Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience.

Niño MY, Wijgerde M, de Faria DOS, Hoogeveen-Westerveld M, Bergsma AJ, Broeders M, van der Beek NAME, van den Hout HJM, van der Ploeg AT, Verheijen FW, Pijnappel WWMP

European journal of human genetics : EJHG, 2021 03

doi: 10.1038/s41431-020-00752-2

Distal muscle weakness is a common and early feature in long-term enzyme-treated classic infantile Pompe patients.

van den Dorpel JJA, Poelman E, Harlaar L, van Kooten HA, van der Giessen LJ, van Doorn PA, van der Ploeg AT, van den Hout JMP, van der Beek NAME

Orphanet journal of rare diseases, 2020 09 14

doi: 10.1186/s13023-020-01482-w

Positive association between physical outcomes and patient-reported outcomes in late-onset Pompe disease: a cross sectional study.

Yuan M, Andrinopoulou ER, Kruijshaar ME, Lika A, Harlaar L, van der Ploeg AT, Rizopoulos D, van der Beek NAME

Orphanet journal of rare diseases, 2020 09 03

doi: 10.1186/s13023-020-01469-7

Effects of higher and more frequent dosing of alglucosidase alfa and immunomodulation on long-term clinical outcome of classic infantile Pompe patients.

Poelman E, van den Dorpel JJA, Hoogeveen-Westerveld M, van den Hout JMP, van der Giessen LJ, van der Beek NAME, Pijnappel WWMP, van der Ploeg AT

Journal of inherited metabolic disease, 2020 11

doi: 10.1002/jimd.12268

Opportunities and challenges for antisense oligonucleotide therapies.

Kuijper EC, Bergsma AJ, Pijnappel WWMP, Aartsma-Rus A

Journal of inherited metabolic disease, 2021 01

doi: 10.1002/jimd.12251

Novel Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis.

In 't Groen SLM, de Faria DOS, Iuliano A, van den Hout JMP, Douben H, Dijkhuizen T, Cassiman D, Witters P, Barba Romero MÁ, de Klein A, Somers-Bolman GM, Saris JJ, Hoefsloot LH, van der Ploeg AT, Bergsma AJ, Pijnappel WWMP

Molecular therapy. Methods & clinical development, 2020 Jun 12

doi: 10.1016/j.omtm.2019.12.016