• Leadership Profile

G. Eric Davis

• Publication

Quality of life, physical functioning, and psychosocial function among patients with achondroplasia: a targeted literature review (tandfonline.com)

Constantinos Constantinides,Sarah H. LandisORCID Icon,James Jarrett,Jennifer Quinn, Penelope J. Ireland

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INTERNAL: Web Request Form for Commercial Sites Form

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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

• Publication

Evaluating change in diet with pegvaliase treatment in adults with phenylketonuria: Analysis of phase 3 clinical trial data

Fran Rohr, Barbara Burton, Anne Dee, Cary O. Harding, Joshua Lilienstein, Kristin Lindstrom, Erin MacLeod, Sarah Rose, Rani Singh, Sandra van Calcar, Kaleigh Whitehall

• Publication

Real-world treatment, dosing, and discontinuation patterns among patients treated with pegvaliase for phenylketonuria: Evidence from dispensing data

Melissa Lah, Keziah Cook, Dumingu Aparna Gomes, Stephanie Liu, Nadia Tabatabaeepour, Noam Kirson, Er Chen, Kristin Lindstrom, Kaleigh Bulloch Whitehall, Joost Van Backle, Barbara K. Burton

• 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

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

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

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

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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

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‘Her Future is in Her Own Hands’: KK’s Journey with Achondroplasia

• Leadership Profile

C. Greg Guyer

• Publication

Achondroplasia: a comprehensive clinical review

Richard M. Pauli

• 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

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Psychometric Validation of the Haemo-QOL-A in Participants with Hemophilia A Treated with Gene Therapy

Jennifer Quinn, Kathleen A. Delaney, Wing Yen Wong, Wolfgang Miesbach, Monika Bullinger

• Publication

Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease

Fernanda Leal- Pardinas, Rebecca Truty, Dianalee A. McKnight, Britt Johnson, Ana Morales, Sara L. Bristow, Tiffany Yar Pang, Jessica Cohen- Pfeffer, Emanuela Izzo, Raman Sankar, Sookyong Koh, Elaine C. Wirrell, John J. Millichap, Swaroop Aradhya