1. Efficacy and safety of sebelipase alfa in children and adults with Lysosomal Acid Lipase Deficiency: results of a phase 3 trial. Issue 1 (July 2015) Authors: Rojas-Caro, S.; Balwani, M.; Bialer, M.; Grande, C. Camarena; Sanchez, A. Consuelo; Ezgu, F.Suheyl; Kostyleva, M.; Laukaitis, C.; Malinová, V.; Neilan, E.; Peters, H.; Rahman, Y.; Scarpa, M.; Smolka, V.; Taybert, J.; Valayannopoulos, V.; Zenia, M.; Yang, Y.; Eckert, S.; Quinn, A. Journal: Atherosclerosis Issue: Volume 241:Issue 1(2015) Page Start: e25 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Overall Health, Daily Functioning, and Quality of Life in Acute Hepatic Porphyria Patients: ENVISION, a Phase 3 Global, Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial. (February 2020) Authors: Sardh, E.; Gouya, L.; Rees, D.C.; Stein, P.; Stölzel, U.; Aguilera Peiro, P.; Bissell, D.M.; Bonkovsky, H.L.; Keel, S.; Parker, C.; Phillips, J.D.; Silver, S.; Windyga, J.; D'Avola, D.; Ross, G.; Stewart, P.; Ritchie, B.; Oh, J.; Harper, P.; Wang, J.D. Journal: Digestive and liver disease Issue: Volume 52(2020)Supplement 1 Page Start: e35 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. P876: INCIDENTAL DISCOVERY OF PROBABLE PATHOGENIC GERMLINE VARIANTS IN MULTIPLE MYELOMA PATIENTS UNDERGOING SOMATIC GENOMIC PROFILING. (23rd June 2022) Authors: Thibaud, S.; Brander, T.; Balwani, M.; Mouhieddine, T.; Melnekoff, D.; Van Oekelen, O.; Lagana, A.; Houldsworth, J.; Chari, A.; Richter, J.; Sanchez, L.; Richard, S.; Rodriguez, C.; Rossi, A.; Cho, H. J.; Jagannath, S.; Onel, K.; Parekh, S. Journal: HemaSphere Issue: Volume 6(2022)Supplement 3 Page Start: 769 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. X‐chromosomal inactivation directly influences the phenotypic manifestation of X‐linked protoporphyria. Issue 1 (17th February 2015) Authors: Brancaleoni, V.; Balwani, M.; Granata, F.; Graziadei, G.; Missineo, P.; Fiorentino, V.; Fustinoni, S.; Cappellini, M.D.; Naik, H.; Desnick, R.J.; Di Pierro, E. Journal: Clinical genetics Issue: Volume 89:Issue 1(2016) Page Start: 20 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗