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Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates.
Schoenmakers DH, Leferink PS, Vanderver A, Bonkowsky JL, Krägeloh-Mann I, Bernard G, Bertini E, Fatemi A, Fogel BL, Wolf NI, Skwirut D, Buck A, Holberg B, Saunier-Vivar EF, Rauner R, Dekker H, van Bokhoven P, Stellingwerff MD, Berkhof J, van der Knaap MS. Schoenmakers DH, et al. BMC Neurol. 2023 Aug 17;23(1):305. doi: 10.1186/s12883-023-03354-9. BMC Neurol. 2023. PMID: 37592248 Free PMC article.
Basal nuclei are not involved in early metachromatic leukodystrophy.
Beerepoot S, Schoenmakers DH, van der Knaap MS, Wolf NI. Beerepoot S, et al. Among authors: schoenmakers dh. Clin Neurol Neurosurg. 2023 May;228:107696. doi: 10.1016/j.clineuro.2023.107696. Epub 2023 Mar 27. Clin Neurol Neurosurg. 2023. PMID: 36996669 No abstract available.
Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi).
Schoenmakers DH, Beerepoot S, van den Berg S, Adang L, Bley A, Boelens JJ, Fumagalli F, Goettsch WG, Grønborg S, Groeschel S, van Hasselt PM, Hollak CEM, Lindemans C, Mochel F, Mol PGM, Sevin C, Zerem A, Schöls L, Wolf NI. Schoenmakers DH, et al. Orphanet J Rare Dis. 2022 Feb 14;17(1):48. doi: 10.1186/s13023-022-02189-w. Orphanet J Rare Dis. 2022. PMID: 35164810 Free PMC article.
Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.
Laugwitz L, Schoenmakers DH, Adang LA, Beck-Woedl S, Bergner C, Bernard G, Bley A, Boyer A, Calbi V, Dekker H, Eichler F, Eklund E, Fumagalli F, Gavazzi F, Grønborg SW, van Hasselt P, Langeveld M, Lindemans C, Mochel F, Oberg A, Ram D, Saunier-Vivar E, Schöls L, Scholz M, Sevin C, Zerem A, Wolf NI, Groeschel S. Laugwitz L, et al. Among authors: schoenmakers dh. Eur J Paediatr Neurol. 2024 Mar 9;49:141-154. doi: 10.1016/j.ejpn.2024.03.003. Online ahead of print. Eur J Paediatr Neurol. 2024. PMID: 38554683 Free article.
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries.
Schoenmakers DH, Mochel F, Adang LA, Boelens JJ, Calbi V, Eklund EA, Grønborg SW, Fumagalli F, Groeschel S, Lindemans C, Sevin C, Schöls L, Ram D, Zerem A, Graessner H, Wolf NI. Schoenmakers DH, et al. Orphanet J Rare Dis. 2024 Feb 7;19(1):46. doi: 10.1186/s13023-024-03075-3. Orphanet J Rare Dis. 2024. PMID: 38326898 Free PMC article.
13 results