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Author/Creator Harmatz, Paul

1. 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
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2. Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies. (March 2022)

Authors:
Savarirayan, Ravi; De Bergua, Josep Maria; Arundel, Paul; McDevitt, Helen; Cormier-Daire, Valerie; Saraff, Vrinda; Skae, Mars; Delgado, Borja; Leiva-Gea, Antonio; Santos-Simarro, Fernando; Salles, Jean Pierre; Nicolino, Marc; Rossi, Massimiliano; Kannu, Peter; Bober, Michael B.; Phillips, John; S...
Journal:
Therapeutic advances in musculoskeletal disease
Issue:
Volume 14(2022)
Page Start:
Record Type:
Journal Article
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3. Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population. Issue 1 (26th June 2019)

Authors:
Haller, Christine; Song, Wenjie; Cimms, Tricia; Chen, Chao‐Yin; Whitley, Chester B.; Wang, Raymond Y.; Bauer, Mislen; Harmatz, Paul
Journal:
JIMD reports
Issue:
Volume 49:Issue 1(2019)
Page Start:
53
Record Type:
Journal Article
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4. ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Issue 9 (24th June 2020)

Authors:
Elsea, Sarah H.; Solyom, Alexander; Martin, Kirt; Harmatz, Paul; Mitchell, John; Lampe, Christina; Grant, Christina; Selim, Laila; Mungan, Neslihan Oneli; Guelbert, Norberto; Magnusson, Bo; Sundberg, Erik; Puri, Ratna; Kapoor, Seema; Arslan, Nur; DiRocco, Maja; Zaki, Maha; Ozen, Seza; Mahmoud, Im...
Journal:
Human mutation
Issue:
Volume 41:Issue 9(2020)
Page Start:
1469
Record Type:
Journal Article
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6. Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial. Issue 10252 (5th September 2020)

Authors:
Savarirayan, Ravi; Tofts, Louise; Irving, Melita; Wilcox, William; Bacino, Carlos A; Hoover-Fong, Julie; Ullot Font, Rosendo; Harmatz, Paul; Rutsch, Frank; Bober, Michael B; Polgreen, Lynda E; Ginebreda, Ignacio; Mohnike, Klaus; Charrow, Joel; Hoernschmeyer, Daniel; Ozono, Keiichi; Alanay, Yasemi...
Journal:
Lancet
Issue:
Volume 396:Issue 10252(2020)
Page Start:
684
Record Type:
Journal Article
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7. Health Related Quality of Life, Disability, and Pain in Alpha Mannosidosis: Long-Term Data of Enzyme Replacement Therapy With Velmanase Alfa (Human Recombinant Alpha Mannosidase). (3rd September 2018)

Authors:
Borgwardt, Line; Guffon, Nathalie; Amraoui, Yasmina; Jones, Simon A.; De Meirleir, Linda; Lund, Allan M.; Gil-Campos, Mercedes; Van den Hout, Johanna M. P.; Tylki-Szymanska, Anna; Geraci, Silvia; Ardigò, Diego; Cattaneo, Federica; Harmatz, Paul; Phillips, Dawn
Journal:
Journal of inborn errors of metabolism and screening
Issue:
Volume 6(2018)
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Record Type:
Journal Article
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8. Increased leucocyte apoptosis in transfused β‐thalassaemia patients. (6th December 2012)

Authors:
Walter, Patrick B.; Porter, John; Evans, Patricia; Kwiatkowski, Janet L.; Neufeld, Ellis J.; Coates, Thomas; Giardina, Patricia J.; Grady, Robert W.; Vichinsky, Elliott; Olivieri, Nancy; Trachtenberg, Felicia; Alberti, Daniele; Fung, Ellen; Ames, Bruce; Higa, Annie; Harmatz, Paul
Journal:
British journal of haematology
Issue:
Volume 160:Number 3(2013:Feb.)
Page Start:
399
Record Type:
Journal Article
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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. Morquio A Syndrome‐Associated Mutations: A Review of Alterations in the GALNS Gene and a New Locus‐Specific Database. Issue 11 (17th September 2014)

Authors:
Morrone, Amelia; Caciotti, Anna; Atwood, Robert; Davidson, Kathryn; Du, Chaoyi; Francis‐Lyon, Patricia; Harmatz, Paul; Mealiffe, Matthew; Mooney, Sean; Oron, Tal Ronnen; Ryles, April; Zawadzki, Karl A.; Miller, Nicole
Journal:
Human mutation
Issue:
Volume 35:Issue 11(2014:Nov.)
Page Start:
1271
Record Type:
Journal Article
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