Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adults by Robin H. Lachmann, George A. Diaz, Melissa P. Wasserstein, Nicole M. Armstrong, Abhimanyu Yarramaneni, Yong Kim, Monica Kumar

Get full text

Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study by Philip J. Hennis, Elaine Murphy, Rick I. Meijer, Robin H. Lachmann, Radha Ramachandran, Claire Bordoli, Gurinder Rayat, David J. Tomlinson

Get full text

Treatment with miglustat reverses the lipid-trafficking defect in Niemann–Pick disease type C by Robin H Lachmann, Danielle te Vruchte, Emyr Lloyd-Evans, Gabriele Reinkensmeier, Daniel J Sillence, Luisa Fernandez-Guillen, Raymond A Dwek, Terry D Butters, Timothy M Cox, Frances M Platt

Get full text

Benefit of burosumab in adults with X-linked hypophosphataemia (XLH) is maintained with long-term treatment by Karine Briot, Wei Sun, Rachel K Crowley, Maria Luisa Brandi, Stuart H Ralston, Peter Kamenický, Martine Cohen-Solal, Richard Keen, Angela Williams, Muhammad K Javaid, Robin H Lachmann, Annabel Nixon, Mark Nixon, Anne-Lise Lecoq, Sami Kolta, Jennifer S Walsh, Angela J Rylands

Get full text

In-depth phenotyping for clinical stratification of Gaucher disease by Simona D’Amore, Kathleen Page, Aimée Donald, Khadijeh Taiyari, Brian Tom, Patrick Deegan, Chong Y. Tan, Kenneth Poole, Simon A. Jones, Atul Mehta, Derralynn Hughes, Reena Sharma, Robin H. Lachmann, Anupam Chakrapani, Tarekegn Geberhiwot, Saikat Santra, Siddarth Banka, Timothy M. Cox, the MRC GAUCHERITE Consortium

Get full text

Burosumab treatment in adults with X-linked hypophosphataemia: 96-week patient-reported outcomes and ambulatory function from a randomised phase 3 trial and open-label extension by Karine Briot, Rachel K Crowley, Maria Luisa Brandi, Stuart H Ralston, Han-Wook Yoo, Peter Kamenický, Takuo Kubota, Nobuaki Ito, Martine Cohen-Solal, Richard Keen, Angela Williams, Muhammad K Javaid, Hiroyuki Tanaka, Robin H Lachmann, Karl Insogna, Richard Eastell, Yasuhiro Takeuchi, Anthony A Portale, Thomas O Carpenter, Hae Ii Cheong, Yasuo Imanishi, Steven Ing, Suzanne Jan de Beur, Farzana Perwad, Pisit Pitukcheewanont, Thomas J Weber, Annabel Nixon, Mark Nixon, Erik A Imel

Get full text