Robin Lachmann

Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: a randomised, double-blind, placebo-controlled trial

Frederick J. Raal, Raúl D. Santos, Dirk Blom et al. · The Lancet · 2010 · 906 citations

Pharmacy, Pharmacology, Pharmacotherapy +16

Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis

Timothy M. Cox, Robin Lachmann, C. E. Hollak et al. · The Lancet · 2000 · 744 citations

Medicine, Pharmacology, Pharmacotherapy +4

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

Juliane Neumann, José Brás, Emma Deas et al. · Brain · 2009 · 707 citations · Full text

Life Sciences, Genetics, Neurology +15

Identification and Assessment of Anderson-Fabry Disease by Cardiovascular Magnetic Resonance Noncontrast Myocardial T1 Mapping

Daniel Sado, Steven K White, Stefan K. Piechnik et al. · Circulation Cardiovascular Imaging · 2013 · 530 citations · Full text

Medicine, Cardiology, Radiology +17

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

Derralynn Hughes, Suma P. Shankar, Gere Sunder–Plassmann et al. · Journal of Medical Genetics · 2016 · 386 citations · Full text

Life Sciences, Pharmacology, Pharmacotherapy +17