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Neurology|June 13, 2025
Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type CMarc C Patterson, Uma Ramaswami, Aimee Donald, et al.Npj Metabolic Health and Disease|May 9, 2025
Characterization and treatment monitoring of ureagenesis disorders using stable isotopesGabriella Allegri, Martin Poms, Nadia Zürcher, et al.The Lancet. Neurology|June 17, 2026
Safety and efficacy of levacetylleucine in ataxia-telangiectasia: a phase 3, randomised, double-blind, placebo-controlled crossover trialKyriakos Martakis, Tatiana Bremova-Ertl, Clare Bolton, et al.Molecular Genetics and Metabolism|July 15, 2025
Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trialEugen Mengel, Rosalia M Da Riol, Mireia Del Toro, et al.Fertility and Sterility|June 6, 2017
Fertility in adult women with classic galactosemia and primary ovarian insufficiencyBritt van Erven, Gerard T Berry, David Cassiman, et al.The New England Journal of Medicine|January 31, 2024
Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type CTatiana Bremova-Ertl, Uma Ramaswami, Marion Brands, et al.Journal of Neurology|September 3, 2024
Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disordersJulien Park, Tatiana Bremova-Ertl, Marion Brands, et al.Orphanet Journal of Rare Diseases|November 24, 2020
Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort studyEugen Mengel, Bruno Bembi, Mireia Del Toro, et al.Orphanet Journal of Rare Diseases|September 2, 2022
Galactose epimerase deficiency: lessons from the GalNet registryBritt Derks, Didem Demirbas, Rodrigo R Arantes, et al.Molecular Genetics and Metabolism Reports|June 16, 2025
Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity ScaleEugen Mengel, Marc C Patterson, Rosalia M Da Riol, et al.Pageof 7