Publicaties - Centrum voor Lysosomale en Metabole Ziekten, Erasmus MC

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

Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.

Hagemeijer MC, van den Bosch JC, Bongaerts M, Jacobs EH, van den Hout H, Oussoren E, Ruijter GJG

Journal of inherited metabolic disease, 2023 Feb 08

doi: 10.1002/jimd.12597

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

Publicaties Lysosomale stapelingsziekten