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89 results

Modeling cartilage pathology in mucopolysaccharidosis VI using iPSCs reveals early dysregulation of chondrogenic and metabolic gene expression.

Broeders M, van Rooij J, Oussoren E, van Gestel T, Smith C, Kimber S, Verdijk R, Wagenmakers M, van den Hout J, van der Ploeg A, Narcisi R, Pijnappel W

Frontiers in bioengineering and biotechnology, 2022

doi: 10.3389/fbioe.2022.949063

Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns.

Vaz FM, Jamal Y, Barto R, Gelb MH, DeBarber AE, Wevers RA, Nelen MR, Verrips A, Bootsma AH, Bouva MJ, Kleise N, van der Zee W, He T, Salomons GS, Huidekoper HH

Clinica chimica acta; international journal of clinical chemistry, 2022 Dec 16

doi: S0009-8981(22)01414-0

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

Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III: A systematic review.

de Bode CJ, Dogterom EJ, Rozeboom AVJ, Langendonk JJ, Wolvius EB, van der Ploeg AT, Oussoren E, Wagenmakers MAEM

JIMD reports, 2022 Nov

doi: 10.1002/jmd2.12331

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

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