Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Saskia Elgun"'
Autor:
Laura A. Adang, Samuel Groeschel, Chloe Grzyb, Florian S. Eichler, Jamie L. Fraser, Lisa Emrick, Keith Van Haren, Stephanie Keller, Michele Poe, John Bernat, Joshua L. Bonkowsky, Genevieve Bernard, Chloe Stutterd, Paul J. Orchard, Ashish Gupta, Merete Ljungberg, Sabine Grønborg, Francesca Fumagalli, Saskia Elgun, Christiane Kehrer, Justine Shults, Adeline Vanderver, Maria L. Escolar
Publikováno v:
Molecular Genetics and Metabolism. 138:106989
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b6482e4be8e4dc343afee65c04a5fb13
https://doi.org/10.1016/j.ymgme.2022.106989
https://doi.org/10.1016/j.ymgme.2022.106989
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