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Page 1
Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophy.
Schoenmakers DH, Asbreuk MABC, Martin T, Datema M, Beerepoot S, Inbar-Feigenberg M, Groeschel S, Kehrer C, Øberg A, Sevin C, Fumagalli F, Bergner CG, Vieira P, Bley A, Uusimaa J, Horn MA, Brožová K, Stögmann E, Pichler H, Lüftinger R, Eklund EA, Mochel F, Adang LA, Laugwitz L, Boelens JJ, Calbi V, Darling A, García-Cazorla Á, Grønborg SW, Lindemans CA, van Hasselt PM, Hollak CEM, de Koning TJ, Ram D, Dekker H, Schöls L, Zerem A, Graessner H, Wolf NI. Schoenmakers DH, et al. Among authors: gronborg sw. Eur J Paediatr Neurol. 2025 May 29;57:72-81. doi: 10.1016/j.ejpn.2025.05.012. Online ahead of print. Eur J Paediatr Neurol. 2025. PMID: 40482356 Free article.
Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale.
Mengel E, Patterson MC, Da Riol RM, Del Toro M, Deodato F, Gautschi M, Grunewald S, Grønborg SW, Harmatz P, Hennermann JB, Héron B, Maier EM, Roubertie A, Santra S, Tylki-Szymanska A, LaGorio L, Berry-Kravis E, Porter FD, Solomon B, Himmelstrup L, Mickle T, Guenther S, Dali CÍ. Mengel E, et al. Among authors: gronborg sw. Mol Genet Metab Rep. 2025 May 28;43:101233. doi: 10.1016/j.ymgmr.2025.101233. eCollection 2025 Jun. Mol Genet Metab Rep. 2025. PMID: 40520915 Free PMC article.
Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions.
Asbreuk MABC, Schoenmakers DH, Adang LA, Beerepoot S, Bergner C, Bley A, Boelens JJ, Bugiani M, Calbi V, García-Cazorla À, Eklund EA, Fumagalli F, Grønborg SW, Groeschel S, Van Hasselt PM, Hollak CEM, Jones SA, de Koning TJ, van Kuilenburg ABP, Laugwitz L, Lindemans C, Mochel F, Øberg A, Ram D, Schöls L, Sevin C, Sinha J, Vaz FM, Zerem A, Wolf NI. Asbreuk MABC, et al. Among authors: gronborg sw. Neurology. 2025 Jul 22;105(2):e213817. doi: 10.1212/WNL.0000000000213817. Epub 2025 Jun 27. Neurology. 2025. PMID: 40577679 Free PMC article. Review.
Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency.
Alcázar-Fabra M, Østergaard E, Fernández-Ayala DJM, Desbats MA, Morbidoni V, Tomás-Gallado L, García-Corzo L, Blanquer-Roselló MDM, Bartlett AK, Sánchez-Cuesta A, Sena L, Cortés-Rodríguez A, Cascajo-Almenara MV, Pagliarini DJ, Trevisson E, Gronborg SW, Brea-Calvo G. Alcázar-Fabra M, et al. Among authors: gronborg sw. Mol Genet Metab Rep. 2024 Dec 14;42:101176. doi: 10.1016/j.ymgmr.2024.101176. eCollection 2025 Mar. Mol Genet Metab Rep. 2024. PMID: 39759098 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: gronborg sw. Eur J Paediatr Neurol. 2024 Mar;49:141-154. doi: 10.1016/j.ejpn.2024.03.003. Epub 2024 Mar 9. 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. Among authors: gronborg sw. 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.
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