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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 30, 2024
Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical managementLucia Laugwitz, Daphne H Schoenmakers, Laura A Adang, et al.Journal of Inherited Metabolic Disease|April 28, 2026
Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final ResultsMelissa P Wasserstein, Carla E Hollak, Antonio Barbato, et al.Orphanet Journal of Rare Diseases|December 2, 2023
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trialMelissa P Wasserstein, Robin Lachmann, Carla Hollak, et al.The Lancet. Neurology|January 21, 2023
Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trialWolfgang Köhler, Marc Engelen, Florian Eichler, et al.Journal of Inherited Metabolic Disease|January 20, 2020
Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiencyJeannette C Bleeker, Gepke Visser, Kieran Clarke, et al.Journal of Inherited Metabolic Disease|May 4, 2022
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniquesSaskia B Wortmann, Machteld M Oud, Mariëlle Alders, et al.Journal of Inherited Metabolic Disease|January 19, 2026
Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American SurveySarah C Grünert, Mirjam Langeveld, Lisa Rudolph, et al.Epilepsia|March 30, 2023
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international studyNour Elkhateeb, Giorgia Olivieri, Barbara Siri, et al.Blood|November 16, 2013
Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1Anneliese O Speak, Danielle Te Vruchte, Lianne C Davis, et al.JIMD Reports|February 23, 2013
Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortageGabor E Linthorst, Alessandro P Burlina, Franco Cecchi, et al.Pageof 13