Showing results (41-50 of 128) with videos related to
Sort By:
Pageof 13
Blood Advances|June 24, 2020
Hurdles in treating Hurler disease: potential routes to achieve a "real" cureBrigitte T A van den Broek, Jaap van Doorn, Charlotte V Hegeman, et al.JIMD Reports|March 11, 2020
The c.1A > C start codon mutation in <i>CLN3</i> is associated with a protracted disease courseWillemijn F E Kuper, Claudia van Alfen, Linda van Eck, et al.Molecular Genetics and Metabolism Reports|January 8, 2020
Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratioH A Haijes, Hubertus C M T Prinsen, Monique G M de Sain-van der Velden, et al.Journal of Inherited Metabolic Disease|March 2, 2024
Longitudinal volumetric analysis of gray matter atrophy in metachromatic leukodystrophyMurtadha L Al-Saady, Hristina Galabova, Daphne H Schoenmakers, et al.Plos One|March 12, 2015
Vitamin B6 in plasma and cerebrospinal fluid of childrenMonique Albersen, Marjolein Bosma, Judith J M Jans, et al.Iscience|February 24, 2022
Aberrant cyclin C nuclear release induces mitochondrial fragmentation and dysfunction in <i>MED13L</i> syndrome fibroblastsKai-Ti Chang, Jan Jezek, Alicia N Campbell, et al.The New England Journal of Medicine|February 14, 2024
High-Dose ERT, Rituximab, and Early HSCT in an Infant with Wolman's DiseaseSiawosh K Eskandari, Elisabeth G M Revenich, Dirk J Pot, et al.Analytica Chimica Acta|December 4, 2014
Suitability of methylmalonic acid and total homocysteine analysis in dried bloodspotsMonique G M de Sain-van der Velden, Maria van der Ham, Judith J Jans, et al.Brain Communications|November 22, 2021
NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delayIrena J J Muffels, Elsa Wiame, Sabine A Fuchs, et al.Acta Ophthalmologica|October 19, 2020
Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentationWillemijn F E Kuper, Herman E Talsma, Mary J van Schooneveld, et al.Pageof 13