Eugen Mengel

The Morquio A Clinical Assessment Program: Baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects

Paul Harmatz, Eugen Mengel, Roberto Giugliani et al. · Molecular Genetics and Metabolism · 2013 · 148 citations · Full text

Medicine, Physiology, Exercise Testing +15

Efficacy and safety of arimoclomol in <scp>Niemann‐Pick</scp> disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment

Eugen Mengel, Marc C. Patterson, Rosalia Maria Da Riol et al. · Journal of Inherited Metabolic Disease · 2021 · 99 citations · Full text

Life Sciences, Pharmacology, Pharmacotherapy +17

Trial of <i>N</i> -Acetyl- <scp>l</scp> -Leucine in Niemann–Pick Disease Type C

Tatiana Brémovà-Ertl, Uma Ramaswami, Marion M. Brands et al. · New England Journal of Medicine · 2024 · 96 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +11

One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency

George A. Díaz, Simon Jones, Maurizio Scarpa et al. · Genetics in Medicine · 2021 · 91 citations · Full text

Life Sciences, Neurology, Pediatrics +10

Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study

Loren Peña, Richard J. Barohn, Barry J. Byrne et al. · Neuromuscular Disorders · 2018 · 90 citations · Full text

Life Sciences, Pharmacology, Pharmacotherapy +12