المؤلفون: Laugwitz, Lucia, Schoenmakers, Daphne H., Adang, Laura A., Beck-Woedl, Stefanie, Bergner, Caroline, Bernard, Geneviève, Bley, Annette, Boyer, Audrey, Calbi, Valeria, Dekker, Hanka, Eichler, Florian, Eklund, Erik, Fumagalli, Francesca, Gavazzi, Francesco, Grønborg, Sabine W., van Hasselt, Peter, Langeveld, Mirjam, Lindemans, Caroline, Mochel, Fanny, Oberg, Andreas, Ram, Dipak, Saunier-Vivar, Elise, Schöls, Ludger, Scholz, Michael, Sevin, Caroline, Zerem, Ayelet, Wolf, Nicole I., Groeschel, Samuel

المصدر: European Journal of Paediatric Neurology. 49:141-154

مصطلحات موضوعية: Delphi, Expert consensus, Gene therapy, Lysosomal storage disorder, Metachromatic leukodystrophy, Newborn screening, Medicin och hälsovetenskap, Klinisk medicin, Pediatrik, Medical and Health Sciences, Clinical Medicine, Pediatrics

الوصول الحر: https://lup.lub.lu.se/record/73fb1988-71de-409a-be29-295031c53881Test
http://dx.doi.org/10.1016/j.ejpn.2024.03.003Test

المؤلفون: Schoenmakers, Daphne H., Mochel, Fanny, Adang, Laura A., Boelens, Jaap Jan, Calbi, Valeria, Eklund, Erik A., Grønborg, Sabine W., Fumagalli, Francesca, Groeschel, Samuel, Lindemans, Caroline, Sevin, Caroline, Schöls, Ludger, Ram, Dipak, Zerem, Ayelet, Graessner, Holm, Wolf, Nicole I.

المصدر: Orphanet Journal of Rare Diseases. 19(1)

مصطلحات موضوعية: Europe, Healthcare disparities, Hematopoietic stem cell transplantation, Leukodystrophy, Metachromatic, Rare diseases, Medicin och hälsovetenskap, Hälsovetenskap, Hälso- och sjukvårdsorganisation, hälsopolitik och hälsoekonomi, Medical and Health Sciences, Health Sciences, Health Care Service and Management, Health Policy and Services and Health Economy

الوصول الحر: https://lup.lub.lu.se/record/f45eb2ee-74e1-4296-b42d-e32ef49c7a93Test
http://dx.doi.org/10.1186/s13023-024-03075-3Test

المؤلفون: Kern, Jan, Böhringer, Judith, Timmann, Dagmar, Trollmann, Regina, Stendel, Claudia, Kamm, Cristoph, Röbl, Markus, Santhanakumaran, Vidiyaah, Groeschel, Samuel, Beck-Wödl, Stefanie, Synofzik, Matthis

المساهمون: Kern, Jan, Böhringer, Judith, Timmann, Dagmar, Trollmann, Regina, Stendel, Claudia, Kamm, Cristoph, Röbl, Markus, Santhanakumaran, Vidiyaah, Groeschel, Samuel, Beck-Wödl, Stefanie, Synofzik, Matthis

العلاقة: https://resolver.sub.uni-goettingen.de/purl?gro-2/140422Test

الإتاحة: https://doi.org/10.1212/WNL.0000000000207898Test
https://resolver.sub.uni-goettingen.de/purl?gro-2/140422Test

المؤلفون: Groeschel, Samuel, Beerepoot, Shanice, Amedick, Lucas Bastian, Krӓgeloh-Mann, Ingeborg, Li, Jing, Whiteman, David A.H., Wolf, Nicole I., Port, John D.

المصدر: Groeschel , S , Beerepoot , S , Amedick , L B , Krӓgeloh-Mann , I , Li , J , Whiteman , D A H , Wolf , N I & Port , J D 2024 , ' The effect of intrathecal recombinant arylsulfatase A therapy on structural brain magnetic resonance imaging in children with metachromatic leukodystrophy ' , Journal of Inherited Metabolic Disease . https://doi.org/10.1002/jimd.12706Test

العلاقة: https://research.vumc.nl/en/publications/7fdfd3ea-17e5-4d73-b584-0dbe2a4b00e0Test

الإتاحة: https://doi.org/10.1002/jimd.12706Test
https://research.vumc.nl/en/publications/7fdfd3ea-17e5-4d73-b584-0dbe2a4b00e0Test
http://www.scopus.com/inward/record.url?scp=85184437381&partnerID=8YFLogxKTest

المؤلفون: Farah, Mohamed H., Dali, Christine, Groeschel, Samuel, Moldovan, Mihai, Whiteman, David A.H., Malanga, C. J., Krägeloh-Mann, Ingeborg, Li, Jing, Barton, Norman, Krarup, Christian

المصدر: Farah , M H , Dali , C , Groeschel , S , Moldovan , M , Whiteman , D A H , Malanga , C J , Krägeloh-Mann , I , Li , J , Barton , N & Krarup , C 2024 , ' Effects of sulfatide on peripheral nerves in metachromatic leukodystrophy ' , Annals of Clinical and Translational Neurology , vol. 11 , no. 2 , pp. 328-341 . https://doi.org/10.1002/acn3.51954Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1002/acn3.51954Test
https://curis.ku.dk/portal/da/publications/effects-of-sulfatide-on-peripheral-nerves-in-metachromatic-leukodystrophyTest(583a1fe5-9bc1-4c06-9783-74873627101a).html
https://curis.ku.dk/ws/files/382443553/Ann_Clin_Transl_Neurol_2023_Farah_Effects_of_sulfatide_on_peripheral_nerves_in_metachromatic_leukodystrophy.pdfTest

المؤلفون: Pretzel, Pablo, Wilke, Marko, Tournier, J-Donald, Goelz, Rangmar, Lidzba, Karen, Hauser, Till-Karsten, Groeschel, Samuel

المصدر: Pretzel, Pablo; Wilke, Marko; Tournier, J-Donald; Goelz, Rangmar; Lidzba, Karen; Hauser, Till-Karsten; Groeschel, Samuel (2023). Reduced structural connectivity in non-motor networks in children born preterm and the influence of early postnatal human cytomegalovirus infection. Frontiers in neurology, 14(1241387), p. 1241387. Frontiers Media S.A. 10.3389/fneur.2023.1241387

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://boris.unibe.ch/187276Test/

الإتاحة: https://doi.org/10.3389/fneur.2023.1241387Test
https://boris.unibe.ch/187276/1/fneur-14-1241387.pdfTest
https://boris.unibe.ch/187276Test/

المؤلفون: Farah, Mohamed H., Dali, Christine í, Groeschel, Samuel, Moldovan, Mihai, Whiteman, David A. H., Malanga, C. J., Krägeloh‐Mann, Ingeborg, Li, Jing, Barton, Norman, Krarup, Christian

المساهمون: Takeda Pharmaceutical Company

المصدر: Annals of Clinical and Translational Neurology ; volume 11, issue 2, page 328-341 ; ISSN 2328-9503 2328-9503

الإتاحة: https://doi.org/10.1002/acn3.51954Test

المؤلفون: Amedick, Lucas Bastian, Martin, Pascal, Beschle, Judith, Strölin, Manuel, Wilke, Marko, Wolf, Nicole, Pouwels, Petra, Hagberg, Gisela, Klose, Uwe, Naegele, Thomas, Kraegeloh-Mann, Ingeborg, Groeschel, Samuel

المساهمون: Takeda Pharma AG, German Research Foundation

المصدر: Neuropediatrics ; volume 54, issue 04, page 244-252 ; ISSN 0174-304X 1439-1899

الإتاحة: https://doi.org/10.1055/a-2073-4178Test

المؤلفون: Wynn, Robert F., Jones, Simon, Fumagalli, Francesca, Calbi, Valeria, Aiuti, Alessandro, Gröschel, Samuel, Lang, Peter, van Hasselt, Peter, Lindemans, Caroline A., Sevin, Caroline, Dalle, Jean-Hugues, Snell, Katie

المصدر: Transplantation and Cellular Therapy ; volume 29, issue 2, page S227 ; ISSN 2666-6367

مصطلحات موضوعية: Transplantation, Cell Biology, Hematology, Molecular Medicine, Immunology and Allergy

الإتاحة: https://doi.org/10.1016/s2666-6367Test(23)00365-2
https://api.elsevier.com/content/article/PII:S2666636723003652?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2666636723003652?httpAccept=text/plainTest

المؤلفون: Feldmann, Joana, Martin, Pascal, Bender, Benjamin, Laugwitz, Lucia, Zizmare, Laimdota, Trautwein, Christoph, Krägeloh-Mann, Ingeborg, Klose, Uwe, Groeschel, Samuel

المصدر: NeuroImage: Clinical ; volume 37, page 103296 ; ISSN 2213-1582

مصطلحات موضوعية: Cognitive Neuroscience, Neurology (clinical), Neurology, Radiology, Nuclear Medicine and imaging

الإتاحة: https://doi.org/10.1016/j.nicl.2022.103296Test
https://api.elsevier.com/content/article/PII:S2213158222003618?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2213158222003618?httpAccept=text/plainTest