Hasil Pencarian - Can Ficicioglu

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  1. 1
    The Editor’s Choice for Issue 2, Volume 7

    The Editor’s Choice for Issue 2, Volume 7 oleh Can Ficicioglu

    Diterbitkan 2021-09-01
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  2. 2
    Addition of MPS-II to the Recommended Uniform Screening Panel in the United States

    Addition of MPS-II to the Recommended Uniform Screening Panel in the United States oleh David S. Millington, Can Ficicioglu

    Diterbitkan 2022-10-01
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  3. 3
    Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency

    Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency oleh Amanda Barone Pritchard, Alanna Strong, Can Ficicioglu

    Diterbitkan 2020-02-01
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  4. 4
    Provider Perspectives on the Impact of the COVID-19 Pandemic on Newborn Screening

    Provider Perspectives on the Impact of the COVID-19 Pandemic on Newborn Screening oleh Jessica I. Gold, Ian M. Campbell, Can Ficicioglu

    Diterbitkan 2021-07-01
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  5. 5
    Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study

    Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study oleh Can Ficicioglu, Dena R. Matalon, Nicole Luongo, Caitlin Menello, Tracy Kornafel, Andrew J. Degnan

    Diterbitkan 2020-11-01
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  6. 6
    P132: Clinical characteristics and management of patients with mucopolysaccharidosis II (MPS II) in the United States from the Hunter Outcome Survey*

    P132: Clinical characteristics and management of patients with mucopolysaccharidosis II (MPS II) in the United States from the Hunter Outcome Survey* oleh Barbara Burton, Can Ficicioglu, Helio Pedro, Ravi Pathak, Ian Robinson, Ekaterina Wright, Joseph Muenzer

    Diterbitkan 2023-01-01
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  7. 7
    O06: Insights from the first genetic evaluation of a longitudinal natural history study in classical homocystinuria (HCU)*

    O06: Insights from the first genetic evaluation of a longitudinal natural history study in classical homocystinuria (HCU)* oleh Tiziano Pramparo, Kimberly Chapman, Ying Chen, Can Ficicioglu, Harvey Levy, Janet Thomas, Sagar Vaidya, Steve Rodems, Ellen Crushell

    Diterbitkan 2023-01-01
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  8. 8
    [13C]‐galactose breath test in a patient with galactokinase deficiency and spastic diparesis

    [13C]‐galactose breath test in a patient with galactokinase deficiency and spastic diparesis oleh Can Ficicioglu, Didem Demirbas, Britt Derks, G. Shashidhar Pai, David J. Timson, Maria Estela Rubio‐Gozalbo, Gerard T. Berry

    Diterbitkan 2021-05-01
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  9. 9
    Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy

    Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy oleh Jennifer L. Cohen, Jessica Burfield, Karen Valdez-Gonzalez, Angela Samuels, Arianna K. Stefanatos, Marc Yudkoff, Helio Pedro, Can Ficicioglu

    Diterbitkan 2019-08-01
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  10. 10
    Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement

    Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement oleh Andrew J. Degnan, Victor M. Ho-Fung, Rebecca C. Ahrens-Nicklas, Christian A. Barrera, Suraj D. Serai, Dah-Jyuu Wang, Can Ficicioglu

    Diterbitkan 2019-07-01
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  11. 11
    P012: Pegtibatinase, an investigational enzyme replacement therapy for the treatment of classical homocystinuria: Latest findings from the COMPOSE phase 1/2 trial

    P012: Pegtibatinase, an investigational enzyme replacement therapy for the treatment of classical homocystinuria: Latest findings from the COMPOSE phase 1/2 trial oleh Can Ficicioglu, Jaya Ganesh, Wendy Smith, Melissa Lah, David Kudrow, Jalé Güner, Sharon McDermott, Sagar Vaidya, Liz Wilkening, Janet Thomas, Harvey Levy

    Diterbitkan 2024-01-01
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  12. 12
    The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening

    The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening oleh 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

    Diterbitkan 2020-05-01
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  13. 13
    Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease

    Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease oleh Jennifer M. Kwon, Dietrich Matern, Joanne Kurtzberg, Lawrence Wrabetz, Michael H. Gelb, David A. Wenger, Can Ficicioglu, Amy T. Waldman, Barbara K. Burton, Patrick V. Hopkins, Joseph J. Orsini

    Diterbitkan 2018-02-01
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  14. 14
    Newborn Screening for Pompe Disease: Pennsylvania Experience

    Newborn Screening for Pompe Disease: Pennsylvania Experience oleh 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

    Diterbitkan 2020-11-01
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  15. 15
    Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania

    Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania oleh 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

    Diterbitkan 2022-03-01
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  16. 16
    P486: A global Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis

    P486: A global Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis oleh 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

    Diterbitkan 2024-01-01
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  17. 17
    Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)

    Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One) oleh Amy Brower, Kee Chan, Marc Williams, Susan Berry, Robert Currier, Piero Rinaldo, Michele Caggana, Amy Gaviglio, William Wilcox, Robert Steiner, Ingrid A. Holm, Jennifer Taylor, Joseph J. Orsini, Luca Brunelli, Joanne Adelberg, Olaf Bodamer, Sarah Viall, Curt Scharfe, Melissa Wasserstein, Jin Y. Chen, Maria Escolar, Aaron Goldenberg, Kathryn Swoboda, Can Ficicioglu, Dieter Matern, Rachel Lee, Michael Watson

    Diterbitkan 2022-07-01
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  18. 18
    Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

    Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients oleh Jean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, Javad Nadaf, David Coelho, Thomas Josse, Justine Flayac, Aurélie Robert, Isabelle Koscinski, Isabelle Gastin, Pierre Filhine-Tresarrieu, Mihaela Pupavac, Alison Brebner, David Watkins, Tomi Pastinen, Alexandre Montpetit, Fadi Hariri, David Tregouët, Benjamin A Raby, Wendy K. Chung, Pierre-Emmanuel Morange, D. Sean Froese, Matthias R. Baumgartner, Jean-François Benoist, Can Ficicioglu, Virginie Marchand, Yuri Motorin, Chrystèle Bonnemains, François Feillet, Jacek Majewski, David S. Rosenblatt

    Diterbitkan 2018-02-01
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  19. 19
    A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

    A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients oleh Jean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, Javad Nadaf, David Coelho, Thomas Josse, Justine Flayac, Aurélie Robert, Isabelle Koscinski, Isabelle Gastin, Pierre Filhine-Tresarrieu, Mihaela Pupavac, Alison Brebner, David Watkins, Tomi Pastinen, Alexandre Montpetit, Fadi Hariri, David Tregouët, Benjamin A Raby, Wendy K. Chung, Pierre-Emmanuel Morange, D. Sean Froese, Matthias R. Baumgartner, Jean-François Benoist, Can Ficicioglu, Virginie Marchand, Yuri Motorin, Chrystèle Bonnemains, François Feillet, Jacek Majewski, David S. Rosenblatt

    Diterbitkan 2018-01-01
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