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1
The Editor’s Choice for Issue 2, Volume 7 by Can Ficicioglu
Published 2021-09-01
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2
Addition of MPS-II to the Recommended Uniform Screening Panel in the United States by David S. Millington, Can Ficicioglu
Published 2022-10-01
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3
Provider Perspectives on the Impact of the COVID-19 Pandemic on Newborn Screening by Jessica I. Gold, Ian M. Campbell, Can Ficicioglu
Published 2021-07-01
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4
P132: Clinical characteristics and management of patients with mucopolysaccharidosis II (MPS II) in the United States from the Hunter Outcome Survey* by Barbara Burton, Can Ficicioglu, Helio Pedro, Ravi Pathak, Ian Robinson, Ekaterina Wright, Joseph Muenzer
Published 2023-01-01
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5
O06: Insights from the first genetic evaluation of a longitudinal natural history study in classical homocystinuria (HCU)* by Tiziano Pramparo, Kimberly Chapman, Ying Chen, Can Ficicioglu, Harvey Levy, Janet Thomas, Sagar Vaidya, Steve Rodems, Ellen Crushell
Published 2023-01-01
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6
P012: Pegtibatinase, an investigational enzyme replacement therapy for the treatment of classical homocystinuria: Latest findings from the COMPOSE phase 1/2 trial by Can Ficicioglu, Jaya Ganesh, Wendy Smith, Melissa Lah, David Kudrow, Jalé Güner, Sharon McDermott, Sagar Vaidya, Liz Wilkening, Janet Thomas, Harvey Levy
Published 2024-01-01
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7
The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening by Jessica R. C. Priestley, Hana Alharbi, Katharine Press Callahan, Herodes Guzman, Irma Payan-Walters, Ligia Smith, Can Ficicioglu, Rebecca D. Ganetzky, Rebecca C. Ahrens-Nicklas
Published 2020-05-01
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8
Newborn Screening for Pompe Disease: Pennsylvania Experience by Can Ficicioglu, Rebecca C. Ahrens-Nicklas, Joshua Barch, Sanmati R. Cuddapah, Brenda S. DiBoscio, James C. DiPerna, Patricia L. Gordon, Nadene Henderson, Caitlin Menello, Nicole Luongo, Damara Ortiz, Rui Xiao
Published 2020-11-01
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9
Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania by Jessica R. C. Priestley, Laura A. Adang, Sarah Drewes Williams, Uta Lichter-Konecki, Caitlin Menello, Nicole M. Engelhardt, James C. DiPerna, Brenda DiBoscio, Rebecca C. Ahrens-Nicklas, Andrew C. Edmondson, Francis Jeshira Reynoso Santos, Can Ficicioglu
Published 2022-03-01
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10
P486: A global Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis by Can Ficicioglu, Nicole Muschol, Barbara Burton, Martin Magner, Mercedes Gil-Campos, Monica Lopez Rodriguez, Parul Jayakar, Allan Lund, Galit Tal, Jose Elias Garcia-Ortiz, Karolina Stepien, Carolyn Ellaway, Walla Al-Hertani, Roberto Giugliani, Sara Cathey, Julia Hennermann, Christina Lampe, Markey McNutt, Florian Lagler, Maurizio Scarpa, Vernon Sutton, Nathalie Guffon
Published 2024-01-01
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