Zobrazeno 1 - 10
of 556
pro vyhledávání: '"Nicole I, Wolf"'
Autor:
Femke C.C. Klouwer, Stefan D. Roosendaal, Carla E. M. Hollak, Mirjam Langeveld, Bwee Tien Poll-The, Arlette J. van Sorge, Nicole I. Wolf, Marjo S. van der Knaap, Marc Engelen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare peroxisomal enzyme deficiency caused by biallelic variants in the AMACR gene. This deficiency leads to the accumulation of toxic bile acid intermediates (R)-trihydroxychol
Externí odkaz:
https://doaj.org/article/06bcf3f754ad448a8d1311bfc4c466de
Autor:
Bregje Jaeger, Mirjam Langeveld, Robert Brunkhorst, Felix Distelmaier, Ana Pop, Nicole I. Wolf, Annet M. Bosch
Publikováno v:
JIMD Reports, Vol 65, Iss 4, Pp 233-238 (2024)
Abstract Riboflavin transporter deficiency (RTD) is a genetic disorder of reduced riboflavin (vitamin B2) uptake that causes progressive, multifocal neurological dysfunction. Most patients present in early childhood; if patients present later in life
Externí odkaz:
https://doaj.org/article/fed9c733ea2a4ea1b33d7351da7e181c
Autor:
Bonnie C. Plug, Ilma M. Revers, Marjolein Breur, Gema Muñoz González, Jaap A. Timmerman, Niels R.C. Meijns, Daniek Hamberg, Jikke Wagendorp, Erik Nutma, Nicole I. Wolf, Antonio Luchicchi, Huibert D. Mansvelder, Niek P. van Til, Marjo S. van der Knaap, Marianna Bugiani
Publikováno v:
Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-17 (2024)
Abstract Human brain experimental models recapitulating age- and disease-related characteristics are lacking. There is urgent need for human-specific tools that model the complex molecular and cellular interplay between different cell types to assess
Externí odkaz:
https://doaj.org/article/95f2002b28a24aafa6da02213860ae53
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
Autor:
Murtadha Al‐Saady, Shanice Beerepoot, Bonnie C. Plug, Marjolein Breur, Hristina Galabova, Petra J. W. Pouwels, Jaap‐Jan Boelens, Caroline Lindemans, Peter M. vanHasselt, Ulrich Matzner, Adeline Vanderver, Marianna Bugiani, Marjo S. van derKnaap, Nicole I. Wolf
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 7, Pp 1146-1159 (2023)
Abstract Objective Metachromatic leukodystrophy is a lysosomal storage disease caused by deficient arylsulfatase A. It is characterized by progressive demyelination and thus mainly affects the white matter. Hematopoietic stem cell transplantation may
Externí odkaz:
https://doaj.org/article/451b051a73834de09b3e42f76f2a7a8b
Autor:
Lynne Rumping, Petra J. W. Pouwels, Nicole I. Wolf, Holger Rehmann, Mirjam M. C. Wamelink, Quinten Waisfisz, Judith J. M. Jans, Hubertus C. M. T. Prinsen, Jiddeke M. van deKamp, Peter M. vanHasselt
Publikováno v:
JIMD Reports, Vol 64, Iss 3, Pp 217-222 (2023)
Abstract Glutaminase (GLS) hyperactivity was first described in 2019 in a patient with profound developmental delay and infantile cataract. Here, we describe a 4‐year‐old boy with GLS hyperactivity due to a de novo heterozygous missense variant i
Externí odkaz:
https://doaj.org/article/8c7f34563de04820aa37ab8ad392ba9f
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