P577: Gene panels for skeletal dysplasia and epilepsy: Maximizing clinical utility through careful design, regular review, and clinician-laboratory collaboration von Tayoun, Ahmad Abou, Aradhya, Swaroop, Bailey, Mitch, Bastaki, Laila, Dosenovic, Sara, Ezgü, Fatih, Izzo, Emmanuela, Lampe, Christina, O'Byrne, James J., Seratti, Guillermo, Snow, Catherine, Staufner, Christian, Striano, Pasquale

Volltext

Real-world impact of enzyme replacement therapy on endurance in patients with MPS IVA von Reisewitz, Pascal, Hinds, David, Dosenovic, Sara, Ma, Yonghao, Jha, Ashok, Hunt, Abigail, Burton, Barbara K., Guffon, Nathalie

Volltext

Healthcare utilization of patients with hereditary angioedema treated with lanadelumab and subcutaneous C1-inhibitor concentrate von Riedl, Marc A., Hinds, David R., Prince, Patricia M., Alvord, Trevor M., Dosenovic, Sara, Abdelhadi, Jenna F., Brownrigg, Jack R., Camp, Charlotte L., Machnig, Thomas, Banerji, Aleena

Volltext

Healthcare utilization of patients with hereditary angioedema treated with lanadelumab and subcutaneous C1-inhibitor concentrate von Riedl, Marc A, Hinds, David R, Prince, Patricia M, Alvord, Trevor M, Dosenovic, Sara, Abdelhadi, Jenna F, Brownrigg, Jack R, Camp, Charlotte L, Machnig, Thomas, Banerji, Aleena

Volltext

Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa von Mitchell, John J., Burton, Barbara K., Bober, Michael B., Campeau, Philippe M., Cohen, Shelda, Dosenovic, Sara, Ellaway, Carolyn, Bhattacharya, Kaustuv, Guffon, Nathalie, Hinds, David, Lail, Alice, Lin, Shuan-Pei, Magner, Martin, Raiman, Julian, Schwartz-Sagi, Liat, Stepien, Karolina M.

Volltext