1. Abnormal N‐glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake. Issue 1 (22nd July 2021) Authors: Treacy, Eileen P.; Vencken, Sebastian; Bosch, Annet M.; Gautschi, Matthias; Rubio‐Gozalbo, Estela; Dawson, Charlotte; Nerney, Darragh; Colhoun, Hugh Owen; Shakerdi, Loai; Pastores, Gregory M.; O'Flaherty, Roisin; Saldova, Radka Journal: JIMD reports Issue: Volume 61:Issue 1(2021) Page Start: 76 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical course and prognosis in patients with Gaucher disease and parkinsonism. (April 2016) Authors: Lopez, Grisel; Kim, Jenny; Wiggs, Edythe; Cintron, Dahima; Groden, Catherine; Tayebi, Nahid; Mistry, Pramod K.; Pastores, Gregory M.; Zimran, Ari; Goker-Alpan, Ozlem; Sidransky, Ellen Journal: Neurology Issue: Volume 2:Number 2(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP). Issue 2 (30th November 2011) Authors: Hendriksz, Christian J.; Giugliani, Roberto; Harmatz, Paul; Lampe, Christina; Martins, Ana Maria; Pastores, Gregory M.; Steiner, Robert D.; Leão Teles, Elisa; Valayannopoulos, Vassili Journal: Journal of inherited metabolic disease Issue: Volume 36:Issue 2(2013) Page Start: 373 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Enzyme replacement therapy with taliglucerase alfa: 36‐month safety and efficacy results in adult patients with Gaucher disease previously treated with imiglucerase. Issue 7 (18th May 2016) Authors: Pastores, Gregory M.; Shankar, Suma P.; Petakov, Milan; Giraldo, Pilar; Rosenbaum, Hanna; Amato, Dominick J.; Szer, Jeffrey; Chertkoff, Raul; Brill‐Almon, Einat; Zimran, Ari Journal: American journal of hematology Issue: Volume 91:Issue 7(2016:Jul.) Page Start: 661 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Gaucher disease: risk stratification and comorbidities. (2nd November 2017) Authors: Beaton, Brendan; Monzón, José Luis Sierra; Hughes, Derralynn A.; Pastores, Gregory M. Journal: Expert opinion on orphan drugs Issue: Volume 5:Number 11(2017:Nov.) Page Start: 839 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Glucocerebrosidase enzyme activity in GBA mutation Parkinson's disease. (June 2016) Authors: Ortega, Roberto A.; Torres, Paola A.; Swan, Matthew; Nichols, William; Boschung, Sarah; Raymond, Deborah; Barrett, Matthew J.; Johannes, Brooke A.; Severt, Lawrence; Shanker, Vicki; Hunt, Ann L.; Bressman, Susan; Pastores, Gregory M.; Saunders-Pullman, Rachel Journal: Journal of clinical neuroscience Issue: Volume 28(2016:Jun.) Page Start: 185 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Glucosylsphingosine is a key biomarker of Gaucher disease. Issue 11 (8th August 2016) Authors: Murugesan, Vagishwari; Chuang, Wei‐Lien; Liu, Jun; Lischuk, Andrew; Kacena, Katherine; Lin, Haiqun; Pastores, Gregory M.; Yang, Ruhua; Keutzer, Joan; Zhang, Kate; Mistry, Pramod K. Journal: American journal of hematology Issue: Volume 91:Issue 11(2016:Nov.) Page Start: 1082 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Non-neuronopathic lysosomal storage disorders: Disease spectrum and treatments. Issue 2 (March 2015) Authors: Pastores, Gregory M.; Hughes, Derralynn A. Journal: Best practice & research Issue: Volume 29:Issue 2(2015) Page Start: 173 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase. Issue 3 (22nd January 2013) Authors: Zimran, Ari; Pastores, Gregory M.; Tylki‐Szymanska, Anna; Hughes, Derralynn A.; Elstein, Deborah; Mardach, Rebecca; Eng, Christine; Smith, Laurie; Heisel‐Kurth, Margaret; Charrow, Joel; Harmatz, Paul; Fernhoff, Paul; Rhead, William; Longo, Nicola; Giraldo, Pilar; Ruiz, Juan A.; Zahrieh, David; Cr... Journal: American journal of hematology Issue: Volume 88:Issue 3(2013:Mar.) Page Start: 172 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗