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Ophthalmology|December 15, 2024
Characterization of Peripapillary Hyperreflective Ovoid Mass-like Structures in a Broad Spectrum of Neurologic DisordersJonathan A Gernert, Tara Christmann, Elisabeth Kaufmann, 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.
Journal of Inherited Metabolic Disease|November 18, 2016
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revisionNikolas Boy, Chris Mühlhausen, Esther M Maier, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 14, 2025
Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency: From metabolism to clinical implicationsSarah C Grünert, Matthias R Baumgartner, Juliette Bouchereau, et al.
Annals of Neurology|April 18, 2018
Newborn screening: A disease-changing intervention for glutaric aciduria type 1Nikolas Boy, Katharina Mengler, Eva Thimm, et al.
Journal of Inherited Metabolic Disease|July 10, 2023
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatmentUlrike Mütze, Lucy Henze, Julian Schröter, et al.
Scientific Reports|September 30, 2021
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up studyE M Charlotte Märtner, Eva Thimm, Philipp Guder, 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.
Journal of Inherited Metabolic Disease|August 21, 2021
Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatmentEugen Mengel, Marc C Patterson, Rosalia M Da Riol, et al.
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