Showing results (81-90 of 128) with videos related to

Sort By:
Pageof 13
Orphanet Journal of Rare Diseases|October 4, 2013
Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedureEveline J Langereis, Andrea Borgo, Ellen Crushell, et al.
Nature Communications|November 25, 2025
A de novo missense variant in MIDEAS results in increased deacetylase activity of the MiDAC HDAC complex causing a neurodevelopmental syndromeLouise Fairall, Kristupas Sirvydis, Robert E Turnbull, et al.
Biorxiv : the Preprint Server for Biology|March 27, 2026
Translational lipidomics reveals BMP and its precursor LPG as biomarkers for CLN5 Batten diseaseEshaan S Rawat, Nick Manfred, Hisham N Alsohybe, et al.
Annals of Clinical and Translational Neurology|January 23, 2020
Metachromatic leukodystrophy and transplantation: remyelination, no cross-correctionNicole I Wolf, Marjolein Breur, Bonnie Plug, et al.
Orphanet Journal of Rare Diseases|February 15, 2022
Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)Daphne H Schoenmakers, Shanice Beerepoot, Sibren van den Berg, et al.
Blood Advances|January 19, 2018
Early and late outcomes after cord blood transplantation for pediatric patients with inherited leukodystrophiesBrigitte T A van den Broek, Kristin Page, Annalisa Paviglianiti, et al.
Molecular Genetics and Metabolism|July 18, 2019
Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylationHanneke A Haijes, Monique G M de Sain-van der Velden, Hubertus C M T Prinsen, et al.
Clinical Genetics|January 21, 2020
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunctionDaan M Panneman, Saskia B Wortmann, Charlotte A Haaxma, et al.
Metabolites|May 24, 2020
Cross-Omics: Integrating Genomics with Metabolomics in Clinical DiagnosticsMarten H P M Kerkhofs, Hanneke A Haijes, A Marcel Willemsen, et al.
The Journal of Biological Chemistry|March 18, 2017
Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel diseaseDésirée Y van Haaften-Visser, Magdalena Harakalova, Enric Mocholi, et al.
Pageof 13