Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Saskia Elgün"'
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:
Saskia Elgün, Jakob Waibel, Christiane Kehrer, Diane van Rappard, Judith Böhringer, Stefanie Beck-Wödl, Jennifer Just, Ludger Schöls, Nicole Wolf, Ingeborg Krägeloh-Mann, Samuel Groeschel
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
Abstract Background Metachromatic Leukodystrophy (MLD) is a rare autosomal-recessive lysosomal storage disorder caused by mutations in the ARSA gene. While interventional trials often use untreated siblings as controls, the genotype-phenotype correla
Externí odkaz:
https://doaj.org/article/18973d713b264693bee6cb2ec96b1533
Autor:
Vidiyaah, Santhanakumaran, Samuel, Groeschel, Klaus, Harzer, Christiane, Kehrer, Saskia, Elgün, Stefanie, Beck-Wödl, Holger, Hengel, Ludger, Schöls, Tobias B, Haack, Ingeborg, Krägeloh-Mann, Lucia, Laugwitz
Publikováno v:
Molecular Genetics and Metabolism. 137:273-282
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency of arylsulfatase A (ARSA). Subsequent accumulation of sulfatides leads to demyelination and neurodegeneration in the central and peripheral ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffbede6958efbf0918bf70cae6d967e6
https://doi.org/10.1016/j.ymgme.2022.09.009
https://doi.org/10.1016/j.ymgme.2022.09.009
Autor:
Vidiyaah Santhanakumaran, Samuel Groeschel, Klaus Harzer, Christiane Kehrer, Saskia Elgün, Stefanie Beck-Wödl, Holger Hengel, Ludger Schöls, Tobias B. Haack, Ingeborg Krägeloh-Mann, Lucia Laugwitz
Publikováno v:
Molecular Genetics and Metabolism. 138:107372
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dc1ef9aa5d397cc0757475bd43015489
https://doi.org/10.1016/j.ymgme.2023.107372
https://doi.org/10.1016/j.ymgme.2023.107372
Autor:
Saskia Elgün, Stefanie Beck-Wödl, Samuel Groeschel, Christiane Kehrer, Ingeborg Krägeloh-Mann, Judith Böhringer, Christa Raabe, Andrea Bevot, Ludger Schöls, Nadja Kaiser
Publikováno v:
Neurology 96(2), 10.1212/WNL.0000000000011047-(2021). doi:10.1212/WNL.0000000000011047
ObjectiveTo compare disease progression between different onset forms of metachromatic leukodystrophy (MLD) and to investigate the influence of the type of first symptoms on the natural course and dynamic of disease progression.MethodsClinical, genet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5433e72cd0acf61d38b82eb3980229e5
https://pub.dzne.de/record/155747
https://pub.dzne.de/record/155747
Autor:
Christiane Kehrer, Saskia Elgün, Judith Böhringer, Nadja Kaiser, Christa Raabe, Ingeborg Krägeloh-Mann, Samuel Groeschel, Ludger Schöls, Andrea Bevot
Publikováno v:
Neuropediatrics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ccf31bc8265d9370bc8bee5f9a18c302
https://doi.org/10.1055/s-0039-1698236
https://doi.org/10.1055/s-0039-1698236