Zobrazeno 1 - 10
of 96
pro vyhledávání: '"H. Schoenmakers"'
Autor:
Daphne H. Schoenmakers, Irene vanBeelen, Marije M.C. Voermans, Denise Perik, Menno D. Stellingwerff, Nicole I. Wolf, Johannes Berkhof, Marjo S. van derKnaap
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 3, Pp 650-661 (2024)
Abstract Objectives Investigate the results and usability of the Vineland‐3 as an outcome measure in vanishing white matter patients. Methods A cross‐sectional investigation of the Vineland‐3 based on interviews with caregivers, the Health Util
Externí odkaz:
https://doaj.org/article/2f687ce0e8ea4cd9b40d2995598ebc3d
Autor:
Daphne H. Schoenmakers, Fanny Mochel, Laura A. Adang, Jaap-Jan Boelens, Valeria Calbi, Erik A. Eklund, Sabine W. Grønborg, Francesca Fumagalli, Samuel Groeschel, Caroline Lindemans, Caroline Sevin, Ludger Schöls, Dipak Ram, Ayelet Zerem, Holm Graessner, Nicole I. Wolf
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background For decades, early allogeneic stem cell transplantation (HSCT) has been used to slow neurological decline in metachromatic leukodystrophy (MLD). There is lack of consensus regarding who may benefit, and guidelines are lacking. Cli
Externí odkaz:
https://doaj.org/article/15b67733f9df4ad2852654ef151aeadb
Autor:
Daphne H. Schoenmakers, Prisca S. Leferink, Adeline Vanderver, Joshua L. Bonkowsky, Ingeborg Krägeloh-Mann, Geneviève Bernard, Enrico Bertini, Ali Fatemi, Brent L. Fogel, Nicole I. Wolf, Donna Skwirut, Allyson Buck, Brett Holberg, Elise F. Saunier-Vivar, Robert Rauner, Hanka Dekker, Pieter van Bokhoven, Menno D. Stellingwerff, Johannes Berkhof, Marjo S. van der Knaap
Publikováno v:
BMC Neurology, Vol 23, Iss 1, Pp 1-15 (2023)
Abstract Background The leukodystrophy “Vanishing White Matter” (VWM) is an orphan disease with neurological decline and high mortality. Currently, VWM has no approved treatments, but advances in understanding pathophysiology have led to identifi
Externí odkaz:
https://doaj.org/article/8f4af726592c4d9fb60b72f567204c44
Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy
Autor:
Daphne H. Schoenmakers, Shanice Beerepoot, Ingeborg Krägeloh‐Mann, Saskia Elgün, Benjamin Bender, Marjo S. van derKnaap, Nicole I. Wolf, Samuel Groeschel
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 12, Pp 1999-2009 (2022)
Abstract Objectives Metachromatic leukodystrophy (MLD) has characteristic white matter (WM) changes on brain MRI, which often trigger biochemical and genetic confirmation of the diagnosis. In early or pre‐symptomatic disease stages, these typical M
Externí odkaz:
https://doaj.org/article/1186bb268e09466c831687ef59500b22
Autor:
Daphne H. Schoenmakers, Shanice Beerepoot, Sibren van den Berg, Laura Adang, Annette Bley, Jaap-Jan Boelens, Francesca Fumagalli, Wim G. Goettsch, Sabine Grønborg, Samuel Groeschel, Peter M. van Hasselt, Carla E. M. Hollak, Caroline Lindemans, Fanny Mochel, Peter G. M. Mol, Caroline Sevin, Ayelet Zerem, Ludger Schöls, Nicole I. Wolf
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-14 (2022)
Abstract Background Metachromatic Leukodystrophy (MLD) is a rare lysosomal disorder. Patients suffer from relentless neurological deterioration leading to premature death. Recently, new treatment modalities, including gene therapy and enzyme replacem
Externí odkaz:
https://doaj.org/article/8c393f5208e146328f0af2066de15352
Publikováno v:
Beerepoot, S, Schoenmakers, D H, van der Knaap, M S & Wolf, N I 2023, ' Basal nuclei are not involved in early metachromatic leukodystrophy ', Clinical Neurology and Neurosurgery, vol. 228, 107696, pp. 1-2 . https://doi.org/10.1016/j.clineuro.2023.107696
Beerepoot, S, Schoenmakers, D H, van der Knaap, M S & Wolf, N I 2023, ' Basal nuclei are not involved in early metachromatic leukodystrophy ', Clinical Neurology and Neurosurgery, vol. 228, 107696 . https://doi.org/10.1016/j.clineuro.2023.107696
Clinical Neurology and Neurosurgery, 228:107696. Elsevier
Clinical neurology and neurosurgery, 228:107696. Elsevier
Clinical Neurology and Neurosurgery, 228:107696, 1-2. Elsevier
Beerepoot, S, Schoenmakers, D H, van der Knaap, M S & Wolf, N I 2023, ' Basal nuclei are not involved in early metachromatic leukodystrophy ', Clinical Neurology and Neurosurgery, vol. 228, 107696 . https://doi.org/10.1016/j.clineuro.2023.107696
Clinical Neurology and Neurosurgery, 228:107696. Elsevier
Clinical neurology and neurosurgery, 228:107696. Elsevier
Clinical Neurology and Neurosurgery, 228:107696, 1-2. Elsevier
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c6d228b7086f4f4a774fb3a3d7025ee
https://research.vu.nl/en/publications/141987c3-5a18-4a9d-bbd6-29d99f6b5ceb
https://research.vu.nl/en/publications/141987c3-5a18-4a9d-bbd6-29d99f6b5ceb
Core protocol development for phase 2/3 clinical trials in the leukodystrophy Vanishing White Matter
Autor:
Daphne H. Schoenmakers, Prisca S. Leferink, Adeline Vanderver, Joshua L. Bonkowsky, Ingeborg Krägeloh-Mann, Geneviève Bernard, Enrico Bertini, Ali Fatemi, Brent L. Fogel, Nicole I. Wolf, Donna Skwirut, Allyson Buck, Brett Holberg, Elise F. Saunier-Vivar, Robert Rauner, Hanka Dekker, Pieter Bokhoven, Menno D. Stellingwerff, Johannes Berkhof, Marjo S. Knaap
Background: The leukodystrophy “Vanishing White Matter” (VWM) is an orphan disease with neurological decline and high mortality. Currently, VWM has no approved treatments, but advances in understanding pathophysiology have led to identification o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::69f30c2e7a4d2f5a844caa3581f1d468
https://doi.org/10.21203/rs.3.rs-2446334/v1
https://doi.org/10.21203/rs.3.rs-2446334/v1
Publikováno v:
Chemie Ingenieur Technik. 77:1749-1758
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2ffc79d280c397db9df5de476f58c7a0
https://doi.org/10.1002/cite.200500140
https://doi.org/10.1002/cite.200500140
Autor:
Edgar J. Rolleman, E. P. Krenning, G. Hennemann, H. Van Toor, M. De Jong, C. H. H. Schoenmakers
Publikováno v:
European Journal of Endocrinology, 142, 125-130. Bioscientifica Ltd
OBJECTIVE: Liver handling of thyroid hormones (TH) has been known to alter significantly during fasting. This study investigates whether renal handling of TH is also changed during fasting. METHODS: We measured urinary excretion rates and clearances
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf7b45f9af3999db16a71b2ea6052477
https://doi.org/10.1530/eje.0.1420125
https://doi.org/10.1530/eje.0.1420125
Publikováno v:
Chemie Ingenieur Technik. 71:323-327
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::abe20909589f72e767288c48aa9fff69
https://doi.org/10.1002/cite.330710403
https://doi.org/10.1002/cite.330710403