Sapropterin hydrochloride: enzyme enhancement therapy for phenylketonuria

by Robin Lachmann
Published 2011-06-01

Valproate-induced hyperammonemia - uncovering an underlying inherited metabolic disorder: a case report

by Shaine Mehta, Sarrah Tayabali, Robin Lachmann
Published 2018-05-01

Physical function and mobility in adults with X-linked hypophosphatemia

by Giorgio Orlando, Shane Clarke, Matthew Roy, Robin Lachmann, Jennifer Walsh, Marian Schini, Javaid Kassim, Alex Ireland
Published 2021-04-01

Education and training in adult metabolic medicine: Results of an international survey

by Annalisa Sechi, Elisa Fabbro, Mirjam Langeveld, Annarita Tullio, Robin Lachmann, Fanny Mochel, the SSIEM Adult Physicians Metabolic Group
Published 2019-09-01

SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation

by Thorsten Marquardt, Vladimir Bzduch, Max Hogrebe, Stephan Rust, Janine Reunert, Marianne Grüneberg, Julien Park, Nico Callewaert, Robin Lachmann, Yoshinao Wada, Thomas Engel
Published 2020-12-01

Registries for orphan drugs: generating evidence or marketing tools?

by Carla E. M. Hollak, Sandra Sirrs, Sibren van den Berg, Vincent van der Wel, Mirjam Langeveld, Hanka Dekker, Robin Lachmann, Saco J. de Visser
Published 2020-09-01

Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials

by Mario Cortina-Borja, Danielle te Vruchte, Eugen Mengel, Yasmin Amraoui, Jackie Imrie, Simon A. Jones, Christine i Dali, Paul Fineran, Thomas Kirkegaard, Heiko Runz, Robin Lachmann, Tatiana Bremova-Ertl, Michael Strupp, Frances M. Platt
Published 2018-08-01

Long-term safety in adults with X-linked Hypophosphatemia (XLH) treated with Burosumab, a fully human monoclonal antibody against FGF23: Final results of a phase 3 trial

by Peter Kamenický, Anthony A. Portale, Tom Carpenter, Karine Briot, Erik A. Imel, Thomas Weber, Pisit Pitukcheewanont, Hae Il Cheong, Suzanne Jan de Beur, Yasuo Imanishi, Nobuaki Ito, Robin Lachmann, Hiroyuki Tanaka, Farzana Perwad, Lin Zhang, Alison Skrinar, Linda Rees, Karl L. Insogna
Published 2020-10-01