Marie‐Pierre Luton

Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes

Werner Blum, Jürgen Klammt, Serge Amselem et al. · EBioMedicine · 2018 · 58 citations · Full text

Medicine, Endocrinology, Pediatrics +17

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 trial

Wolfgang Köhler, Marc Engelen, Florian Eichler et al. · The Lancet Neurology · 2023 · 42 citations · Full text

Medicine, Endocrinology, Pharmacology +4

A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome

Domitille Gras, Christelle Cousin, Caroline Kappeler et al. · Annals of Neurology · 2017 · 36 citations · Full text

Medicine, Genetics, Neurology +17

No effect of triheptanoin on exercise performance in McArdle disease

Karen L. Madsen, Pascal Laforêt, Astrid Emilie Buch et al. · Annals of Clinical and Translational Neurology · 2019 · 23 citations · Full text

Life Sciences, Pharmacotherapy, Physiology +17

A double‐blind, placebo‐controlled trial of triheptanoin in adult polyglucosan body disease and open‐label, long‐term outcome

Raphael Schiffmann, Mary Wallace, Daisy Rinaldi et al. · Journal of Inherited Metabolic Disease · 2017 · 22 citations

Medicine, Pharmacology, Pharmacotherapy +2