Publicaties - Centrum voor Lysosomale en Metabole Ziekten, Erasmus MC

Measurement Properties of 2 Novel PROs, the Pompe Disease Symptom Scale and Pompe Disease Impact Scale, in the COMET Study.

Dimachkie MM, Kishnani PS, Ivanescu C, Flore G, Gwaltney C, van der Beek NAME, Hamed A, An Haack K, Pollissard L, Baranowski E, Sparks SE, DasMahapatra P,

Neurology. Clinical practice, 2023 Oct

doi: 10.1212/CPJ.0000000000200181

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

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

Publicaties Lysosomale stapelingsziekten