1. Delivery of epilepsy care to adults with intellectual and developmental disabilities. (27th October 2015) Authors: Devinsky, Orrin; Asato, Miya; Camfield, Peter; Geller, Eric; Kanner, Andres M.; Keller, Seth; Kerr, Michael; Kossoff, Eric H.; Lau, Heather; Kothare, Sanjeev; Singh, Baldev K.; Wirrell, Elaine Journal: Neurology Issue: Volume 85:Number 17(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Outcomes after 8 years of eliglustat therapy for Gaucher disease type 1: Final results from the Phase 2 trial. Issue 1 (26th October 2018) Authors: Lukina, Elena; Watman, Nora; Dragosky, Marta; Lau, Heather; Avila Arreguin, Elsa; Rosenbaum, Hanna; Zimran, Ari; Foster, Meredith C.; Gaemers, Sebastiaan J. M.; Peterschmitt, M. Judith Journal: American journal of hematology Issue: Volume 94:Issue 1(2019:Jan.) Page Start: 29 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS). Issue 2 (12th December 2017) Authors: Zimran, Ari; Belmatoug, Nadia; Bembi, Bruno; Deegan, Patrick; Elstein, Deborah; Fernandez‐Sasso, Diego; Giraldo, Pilar; Goker‐Alpan, Ozlem; Lau, Heather; Lukina, Elena; Panahloo, Zoya; Schwartz, Ida Vanessa D. Journal: American journal of hematology Issue: Volume 93:Issue 2(2018:Feb.) Page Start: 205 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy. (30th April 2019) Authors: Lochmüller, Hanns; Behin, Anthony; Caraco, Yoseph; Lau, Heather; Mirabella, Massimiliano; Tournev, Ivailo; Tarnopolsky, Mark; Pogoryelova, Oksana; Woods, Catherine; Lai, Alexander; Shah, Jinay; Koutsoukos, Tony; Skrinar, Alison; Mansbach, Hank; Kakkis, Emil; Mozaffar, Tahseen Journal: Neurology Issue: Volume 92:Number 18(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double‐blind, pilot study. (10th June 2015) Authors: Burton, Barbara K.; Berger, Kenneth I.; Lewis, Gregory D.; Tarnopolsky, Mark; Treadwell, Marsha; Mitchell, John J.; Muschol, Nicole; Jones, Simon A.; Sutton, V. Reid; Pastores, Gregory M.; Lau, Heather; Sparkes, Rebecca; Genter, Fred; Shaywitz, Adam J.; Harmatz, Paul Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2272 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial. Issue 12 (December 2021) Authors: Schoser, Benedikt; Roberts, Mark; Byrne, Barry J; Sitaraman, Sheela; Jiang, Hai; Laforêt, Pascal; Toscano, Antonio; Castelli, Jeff; Díaz-Manera, Jordi; Goldman, Mitchell; van der Ploeg, Ans T; Bratkovic, Drago; Kuchipudi, Srilakshmi; Mozaffar, Tahseen; Kishnani, Priya S; Sebok, Agnes; Pestronk, A... Journal: Lancet neurology Issue: Volume 20:Issue 12(2021) Page Start: 1027 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. A novel nonsense CAMTA1 mutation presenting as a tremor predominant phenotype. (January 2016) Authors: Agarwal, Shashank; Gilbert, Rebecca; Lau, Heather Journal: Parkinsonism & related disorders Issue: Volume 22(2016)Supplement 2 Page Start: e174 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Aceruloplasminemia and putaminal cavitation. (June 2018) Authors: Riboldi, Giulietta Maria; Anstett, Kara; Jain, Rajan; Lau, Heather; Swope, David Journal: Parkinsonism & related disorders Issue: Volume 51(2018) Page Start: 121 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double‐blind, pilot study. (10th June 2015) Authors: Burton, Barbara K.; Berger, Kenneth I.; Lewis, Gregory D.; Tarnopolsky, Mark; Treadwell, Marsha; Mitchell, John J.; Muschol, Nicole; Jones, Simon A.; Sutton, V. Reid; Pastores, Gregory M.; Lau, Heather; Sparkes, Rebecca; Genter, Fred; Shaywitz, Adam J.; Harmatz, Paul Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2272 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Diagnostic Tips from a Video Series and Literature Review of Patients with Late-Onset Tay-Sachs Disease. Issue 1 (27th December 2022) Authors: Riboldi, Giulietta Maria; Lau, Heather Journal: Tremor and other hyperkinetic movements Issue: Volume 12:Issue 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗