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Mucopolysaccharidosis (MPS)

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Congress Posters and Presentations

Access posters and presentations from recent congresses. All displayed posters and presentations are protected by copyright and are intended for individual use only.
Please Note: Poster content may be unavailable or delayed. This could be due to copyright or embargo guidelines.
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Poster

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  • Congresses
  • MPS IVA
  • MPS VI
  • American College of Medical Genetics and Genomics
  • 2023

Gene panels for skeletal dysplasia and epilepsy: Maximizing clinical utility through careful design, regular review, and clinician-laboratory collaboration

A. A. Tayoun, S. Aradhya, M. Bailey, L. Bastaki, S. Došenović, F. Ezgü, E. Izzo, C. Lampe, J. J. O’Byrne, G. Seratti, C. Snow, C. Staufner, P. Striano

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Poster

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  • Congresses
  • MPS IVA
  • WORLDSymposium
  • 2023

Real-World Impact of Enzyme Replacement Therapy on Endurance in Patients with MPS IVA

P. Reisewitz, D. Hinds, S. Došenović, Y. Ma, A. Jha, A. Hunt, B. Burton, N. Guffon

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Presentation

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  • Congresses
  • MPS IVA
  • WORLDSymposium
  • 2022

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

J. Mitchell, MD

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Poster

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  • Congresses
  • MPS IVA
  • MPS VI
  • American College of Medical Genetics and Genomics
  • 2022

Clinical utility of a sponsored, no-charge skeletal dysplasia gene panel testing program: Results from >2600 tests

G. MacCarrick, W. Mackenzie, C. Raggio, K. White, D. Krakow, E. Izzo, V. Pansare, A. Hunt, R. Shediac, D. Chu, T. Y. Pang, S. Poll, H. McLaughlin, G. Seratti

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Poster

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  • Congresses
  • MPS IVA
  • Society for the Study of Inborn Errors of Metabolism
  • 2022

Long-Term Outcomes in Adults with MPS IVA Treated with Elosulfase Alfa: Findings from the Morquio A Registry Study

K. M. Stepien, B. Burton, M. B. Bober, P. M. Campeau, S. Cohen, S. Dosenovic, C. Ellaway, K. Bhattacharya, N. Guffon, D. Hinds, A. Hunt, A. Lail, S. P. Lin, M. Magner, E. Murphy, J. Raiman, J. Mitchell

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Poster

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  • Congresses
  • MPS IVA
  • MPS VI
  • WORLDSymposium
  • 2021

Clinical Utility of a Sponsored, No-cost Skeletal Dysplasia Gene Panel Testing Program: Results from 850 Tests

G. Seratti, V. Pansare, T. Y. Pang, E. Izzo, W. Mackenzie, C. Raggio, K. White, R. Truty, B. Johnson, S. Aradhya

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Poster

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  • Congresses
  • MPS IVA
  • WORLDSymposium
  • 2021

Molecular Basis of Mucopolysaccharidosis IVA (Morquio A Syndrome): A Review and Classification of GALNS Gene Variants and Reporting of New Variants

A. Singh, A. Zanetti, A. Morrone, M. AlSayed, A. C. Brusius-Facchin, Y. H. Chien, F. D’Avanzo, R. Giugliani, E. Izzo, D. C. Kasper, H. Y. Lin, S. P. Lin, L. Pollard, R. Tonin, T. Wood, R. Tomanin

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