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• Publication

Real-World Rates of Bleeding, Factor VIII Use, and Quality of Life in Individuals with Severe Haemophilia A Receiving Prophylaxis in a Prospective, Noninterventional Study

Gili Kenet, Yeu-Chin Chen, Gillian Lowe, Charles Percy, Huyen Tran, Annette von Drygalski, Marc Trossaert, Mark Reding, Johannes Oldenburg, Maria Eva Mingot-Castellano, Young-Shil Park, Flora Peyvandi, Margareth C. Ozelo, Johnny Mahlangu, Jennifer Quinn, Mei Huang, Divya B. Reddy, Benjamin Kim

• Publication

Molecular analysis of AAV5-hFVIII-SQ vector-genome-processing kinetics in transduced mouse and nonhuman primate livers

Choong-Ryoul Sihn, Britta Handyside, Su Liu, Lening Zhang, Ryan Murphy, Bridget Yates, Lin Xie, Richard Torres, Chris B. Russel, Charles A. O’Neill, Erno Pungor, Stuart Bunting, Sylvia Fong.

• Publication

The Impact of Pre-existing Immunity on the Non-clinical Pharmacodynamics of AAV5-Based Gene Therapy

Brian R. Long, Krystal Sandza, Jennifer Holcomb, Lucy Crockett, Gregory M. Hayes, Jeremy Arena, Carls Fonck, Laurie S. Tsurda, Becky Schweighardt, Charles A. O’neill, Stephen Zoog, Christian Vettermann

• Publication

Gene Therapy with BMN 270 Results in Therapeutic Levels of FVIII in Mice and Primates and Normalization of Bleeding in Hemophilic Mice

Stuart Bunting, Lening Zhang,1 Lin Xie, Sherry Bullens, Rajeev Mahimkar, Sylvia Fong, Krystal Sandza, Danielle Harmon, Bridget Yates, Britta Handyside, Choong-Ryoul Sihn, Nicole Galicia, Laurie Tsuruda, Charles A. O’Neill, Anil Bagri, Peter Colosi, Shinong Long, Gordon Vehar, and Barrie Carte

• Publication

Validation of an IFN-gamma ELISpot assay to measure cellular immune responses against viral antigens in non-human primates

Fan Yang, Kathryn Patton, Theresa Kasprzyk, Brian Long, Soumi Gupta, Stephen J Zoog, Kristin Tracy, Chrstian Vettermann

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Assessing the potential cost-effectiveness of a gene therapy for the treatment of hemophilia A

Keziah Cook, Shaun P. Forbes, Kelly Adamski, Janice J. Ma, Anita Chawla & Louis P. Garrison Jr

• Publication

Deciphering conundrums of adeno-associated virus liver-directed gene therapy: focus on hemophilia

Glenn F. Pierce, Sylvia Fong, Brian R. Long, Radoslaw Kaczmarek

• Publication

The Morquio A Clinical Assessment Program: Baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects

Paul Harmatz, Karl Eugen Mengel, Roberto Giugliani, Vassili Valayannopoulos, Shuan-Pei Lin, Rossella Parini, Nathalie Guffon, Barbara K. Burton, Christian J. Hendriksz, John Mitchell, Ana Martins, Simon Jones, Norberto Guelbert, Ashok Vellodi, Carla Hollak, Peter Slasor, Celeste Decker

• Publication

Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome

Paul R. Harmatz, Karl Eugen Mengel, Roberto Giugliani, Vassili Valayannopoulos, Shuan-Pei Lin, Rossella Parini, Nathalie Guffon, Barbara K. Burton, Christian J. Hendriksz, John J. Mitchell , Ana Maria Martins , Simon A. Jones, Norberto Guelbert, Ashok Vellodi, Frits A. Wijburg, Ke Yang , Peter Slasor, Celeste Decker

• Publication

Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome

Christian J. Hendriksz, Rossella Parini, Moeenaldeen D. AlSayed, Julian Raiman, Roberto Giugliani, Martha L. Solano Villarreal, John J. Mitchell, Barbara K. Burton, Norberto Guelbert, Fiona Stewart, Derralynn A. Hughes, Kenneth I. Berger, Peter Slasor m, Robert Matousek, Elaina Jurecki, Adam J. Shaywitz, Paul R. Harmatz

• Publication

Multi-domain impact of elosulfase alfa in Morquio A syndrome in the pivotal phase III trial

Christian J. Hendriksz, Roberto Giugliani, Paul Harmatz, Eugen Mengel, Nathalie Guffon, Vassili Valayannopoulos, Rossella Parini, Derralynn Hughes, Gregory M. Pastores, Heather A. Lau, Moeenaldeen D. Al-Sayed, Julian Raiman, STRIVE Investigators, Ke Yang, Matthew Mealiffe, Christine Haller

• Publication

Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa

John J. Mitchell, Barbara K. Burton, Michael B. Bober, Philippe M. Campeau, Shelda Cohen, Sara Dosenovic, Carolyn Ellaway, Kaustuv Bhattacharya, Nathalie Guffon, David Hinds, Alice Lail, Shuan-Pei Lin, Martin Magner, Julian Raiman, Liat Schwartz-Sagi, Karolina M. Stepien

• Publication

The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

P. Harmatz, C.J. Hendriksz, C. Lampe , J.J. McGill, R. Parini, E. Leão-Teles, V. Valayannopoulos , T.J. Cole , R. Matousek, S. Graham , N. Guffon, A. Quartel, MPS VI Study Group

• Publication

Long-Term Galsulfase Treatment Associated With Improved Survival of Patients With Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): 15-Year Follow-Up From the Survey Study

Adrian Quartel, MD, Paul R. Harmatz, MD , Christina Lampe, MD, Nathalie Guffon, MD, David Ketteridge, MD, Elisa Lea˜o-Teles, MD, Simon A. Jones, MD, and Roberto Giugliani, MD, PhD

• Publication

Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program

Christina Lampea, Paul R. Harmatz, Rossella Parinic, Reena Sharmae, Elisa Leão Telesf, Julie Johnsong, Debbie Sivamg, Zlatko Sisic

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Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy

Paula Garcia, Dawn Phillips, JoAnn Johnson, Kenneth Martin, Linda M. Randolph, Howard Rosenfeld, Paul Harmatz

• Publication

Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study

Dafne D.G. Horovitz, Emília K.E.A. Leão, Erlane M. Ribeiro, Ana M. Martins, Anneliese L. Barth, João I.C.F. Neri, Marcelo Kerstenetzky, Ana C.M. Siqueira, Bethania F.R. Ribeiro, Chong A. Kim, Francisca C. Santos, José F.S. Franco, Leniza C.L. Lichtvan, Liane R. Giuliani, Maria Do C.S. Rodrigues, Renata C.F. Bonatti, Thaís B. Teixeira , Alexandra Gonçalves, Charles M. Lourenço, Ane S.S. Pereira, Angelina X. Acosta

• Publication

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

Michael Fietz, Moeenaldeen AlSayed, Derek Burke, Jessica Cohen-Pfeffer, Jonathan D. Cooper, Lenka Dvořáková, Roberto Giugliani, Emanuela IzzO, Helena Jahnová, Zoltan Lukacs, Sara E. Mole, Ines Noher de Halac, David A. Pearce, Helena Poupetova, Angela Schulz, Nicola SpecchiO, Winnie Xin, Nicole Miller

• Publication

Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics

Emily de los Reyes, MD, Lenora Lehwald, MD, Erika F. Augustine, MD, MS, Elizabeth Berry-Kravis, MD, PhD, Karen Butler, BSN, RN, Natalie Cormier, MSN, Scott Demarest, MD, Sam Lu, MD, Jacqueline Madden, RN, PNP, Joffre Olaya, MD, Susan See, MSN, Amy Vierhile, DNP, RN, James W. Wheless, BPharm, MD, Amy Yang, MD, Jessica Cohen-Pfeffer, MD, Dorna Chu, PharmD, Fernanda Leal-Pardinas, MD, Raymond Y. Wang, MD

• Publication

Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy

Nicola Specchio, Nicola Pietrafusa, Marina Trivisano