• 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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Global Compliance and Ethics Program

• Publication

Experiences of children and adolescents living with achondroplasia and their caregivers

Renée Shediac, Olga Moshkovich, Heather Gerould, Rachel Ballinger, Agnes Williams, M. Alex Bellenger, Jennifer Quinn, Julie Hoover-Fong, Klaus Mohnike, Ravi Savarirayan, Dominique Kelly

• Publication

Persostence of haemostatic response following gene therapy with valoctocogene roxaparvovec in severe hemophilia A

K John Pasi, Michael Laffan, Savita Rangarajan, Tara M Robinson, Nina Mitchell, Will Lester, Emily Symington, Bella Madan, Xinqun Yang, Benjamin Kim, Glenn F Pierce, Wing Yen Wong

• Publication

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

Diagnosing mucopolysaccharidosis IVA

Timothy C. Wood, Katie Harvey, Michael Beck, Maira Graeff Burin, Yin-Hsiu Chien, Heather J. Church, Vânia D’Almeida, Otto P. van Diggelen, Michael Fietz, Roberto Giugliani, Paul Harmatz, Sara M. Hawley, Wuh-Liang Hwu, David Ketteridge, Zoltan Lukacs, Nicole Miller, Marzia Pasquali, Andrea Schenone, Jerry N. Thompson, Karen Tylee, Chunli Yu, Christian J. Hendriksz

• Publication

Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study

Christian J. Hendriksz, Barbara Burton, Thomas R. Fleming, Paul Harmatz, Derralynn Hughes, Simon A. Jones, Shuan-Pei Lin, Eugen Mengel, Maurizio Scarpa, Vassili Valayannopoulos, Roberto Giugliani, STRIVE Investigators, Peter Slasor, Debra Lounsbury, Wolfgang Dummer

• Publication

Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI

Paul R. Harmatz, Paula Garcia, Nathalie Guffon, Linda M. Randolph, Renée Shediac, Elizabeth Braunlin, Ralph S. Lachman, Celeste Decker

• Publication

Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program

Paul R. Harmatz, Christina Lampe, Rossella Parkini, Reena Sharma, Elisa L. Teles, Julie Johnson, Debbie Sivam, Zlatko Sisic

• Publication

Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world

Charles M Lourenço, Andre Pessoa, Carmen C Mendes, Carolina Rivera-Nieto, Diane Vergara, Mónica Troncoso, Emily Gardner, Francisca Mallorens, Lina Tavera, Luis A Lizcano, Nora Atanacio, Norberto Guelbert, Norma Specola, Nury Mancilla, Carolina FM de Souza and Sara E Mole

• 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

• Publication

Systematic Review and Meta-Analysis of Neuropsychiatric Symptoms and Executive Functioning in Adults With Phenylketonuria

Deborah A. Bilder, J. Kay Noel, Erin R. Baker, William Irish, Yinpu Chen, Markus J. Merilainen, Suyash Prasad, and Barbara J. Winslow

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Achondroplasia Clinical Trials

• Publication

Persistence of haemostatic response following gene therapy with valoctocogene roxaparvovec in severe haemophilia A

K John Pasi, Michael Laffan, Savita Rangarajan, Tara M Robinson, Nina Mitchell, Will Lester, Emily Symington, Bella Madan, Xinqun Yang, Benjamin Kim, Glenn F Pierce, Wing Yen Wong

• News Post

A 100-Mile Road to Diagnosis: A Mother Shares Her Son’s Journey with Hypochondroplasia