Risultati della ricerca - Can Fıçıcıoğlu

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  1. 1
    Review of miglustat for clinical management in Gaucher disease type 1

    Review of miglustat for clinical management in Gaucher disease type 1 di Can Fıçıcıoğlu

    Pubblicazione 2008
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  2. 2
    Argininosuccinate lyase deficiency: Longterm outcome of 13 patients detected by newborn screening

    Argininosuccinate lyase deficiency: Longterm outcome of 13 patients detected by newborn screening di Can Fıçıcıoğlu, Roseann Mandell, Vivian E. Shih

    Pubblicazione 2009
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  3. 3
    Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)

    Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS) di Can Fıçıcıoğlu, Roberto Giugliani, Paul Harmatz, Nancy J. Mendelsohn, Virginie Jego, Rossella Parini

    Pubblicazione 2017
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  4. 4
    Long-term safety and efficacy of sapropterin: The PKUDOS registry experience

    Long-term safety and efficacy of sapropterin: The PKUDOS registry experience di Nicola Longo, Georgianne L. Arnold, Gabriella Pridjian, Gregory M. Enns, Can Fıçıcıoğlu, Susan Parker, Jessica Cohen‐Pfeffer

    Pubblicazione 2015
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  5. 5
    Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection–Electrospray Ionization–Quadrupole Time-of-Flight Mass Spectrometry

    Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection–Electrospray Ioniz... di Jie Chen, Xueli Li, Andrew C. Edmondson, Gail Ditewig Meyers, Kosuke Izumi, Amanda M. Ackermann, Éva Morava, Can Fıçıcıoğlu, Michael J. Bennett, Miao He

    Pubblicazione 2019
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  6. 6
    Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction

    Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and imm... di Cindy Li, Ankit K. Desai, Punita Gupta, Katherine Dempsey, Vikas Bhambhani, Robert J. Hopkin, Can Fıçıcıoğlu, Pranoot Tanpaiboon, William J. Craigen, Amy S. Rosenberg, Priya S. Kishnani

    Pubblicazione 2021
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  7. 7
    Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease

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

    Pubblicazione 2018
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  8. 8
    Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations

    Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations di Jeffrey M. Chinsky, Rani H. Singh, Can Fıçıcıoğlu, Clara van Karnebeek, Markus Grompe, Grant A. Mitchell, Susan E. Waisbren, Müge Güçsavaş‐Çalıkoğlu, Melissa Wasserstein, Kathryn E. Coakley, C. Ronald Scott

    Pubblicazione 2017
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  9. 9
    The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?

    The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here? di Neal J. Weinreb, Özlem Göker-Alpan, Priya S. Kishnani, Nicola Longo, T. Burrow, John Bernat, Punita Gupta, Nadene Henderson, Hélio Pedro, Carlos E. Prada, Divya Vats, Ravi Ramesh Pathak, Ekaterina Wright, Can Fıçıcıoğlu

    Pubblicazione 2022
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  10. 10
    A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency

    A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency di Georgianne L. Arnold, Johan Van Hove, Debra Freedenberg, Arnold W. Strauss, Nicola Longo, Barbara K. Burton, Cheryl Garganta, Can Fıçıcıoğlu, Stephen Cederbaum, Cary O. Harding, Richard G. Boles, Dietrich Matern, Pranesh Chakraborty, Annette Feigenbaum

    Pubblicazione 2009
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  11. 11
    3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

    3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals di Sarah C. Grünert, Martin Stucki, Raphael J. Morscher, Terttu Suormala, Céline Bürer, Patricie Burda, Ernst Christensen, Can Fıçıcıoğlu, Jürgen Herwig, Stefan Kölker, Dorothea Möslinger, Elisabetta Pasquini, René Santer, Karl Otfried Schwab, Bridget Wilcken, Brian Fowler, Wyatt W. Yue, Matthias R. Baumgartner

    Pubblicazione 2012
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  12. 12
    Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement

    Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement di Rebecca C. Ahrens‐Nicklas, Lars Schlotawa, Andrea Ballabio, Nicola Brunetti‐Pierri, Mauricio De Castro, Thomas Dierks, Florian Eichler, Can Fıçıcıoğlu, Alan Finglas, Jutta Gaertner, Brian Kirmse, Joerg Klepper, Marcus Lee, Amber Olsen, Giancarlo Parenti, Arastoo Vossough, Adeline Vanderver, Laura Adang

    Pubblicazione 2018
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  13. 13
    Epimerase-Deficiency Galactosemia Is Not a Binary Condition

    Epimerase-Deficiency Galactosemia Is Not a Binary Condition di Kimberly K. Openo, Jenny M. Schulz, Claudia A. Vargas, Corey S. Orton, Michael P. Epstein, Rhonda E. Schnur, Fernando Scaglia, Gerard T. Berry, Gary S. Gottesman, Can Fıçıcıoğlu, Alfred E. Slonim, Richard J. Schroer, Chunli Yu, Vanessa E. Rangel, Jennifer C. Keenan, Kerri Lamance, Judith L. Fridovich‐Keil

    Pubblicazione 2005
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  14. 14
    Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase

    Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase di David Dimmock, Q. Zhang, Carlo Dionisi‐Vici, Rosalba Carrozzo, Joseph T.C. Shieh, L-Y Tang, Cavatina K. Truong, Eric Schmitt, Mara Sifry-Platt, S. Lucioli, Filippo M. Santorelli, Can Fıçıcıoğlu, Maria Angeles Rodríguez, Klaas J. Wierenga, Gregory M. Enns, Nicola Longo, Mark Lipson, Hilary Vallance, W. J. Craigen, Fernando Scaglia, L-J. C. Wong

    Pubblicazione 2008
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  15. 15
    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 di Can Fıçıcıoğlu, Nicole Muschol, Barbara K. Burton, Martin Magner, Mercedes Gil‐Campos, M. López Rodríguez, Parul Jayakar, Allan M. Lund, Galit Tal, José Elías García‐Ortíz, Karolina M. Stępień, Carolyn Ellaway, Walla Al‐Hertani, Roberto Giugliani, Sara Cathey, Julia B. Hennermann, Christina Lampe, Markey McNutt, Florian B. Lagler, Maurizio Scarpa, V. Reid Sutton, Nathalie Guffon

    Pubblicazione 2024
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  16. 16
    Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study

    Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study di Nathalie Guffon, Barbara K. Burton, Can Fıçıcıoğlu, Martin Magner, Mercedes Gil‐Campos, Monica A. Lopez-Rodriguez, Parul Jayakar, Allan M. Lund, Galit Tal, José Elías García‐Ortíz, Karolina M. Stępień, Carolyn Ellaway, Walla Al‐Hertani, Roberto Giugliani, Sara Cathey, Julia B. Hennermann, Christina Lampe, Markey McNutt, Florian B. Lagler, Maurizio Scarpa, V. Reid Sutton, Nicole Muschol

    Pubblicazione 2024
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  17. 17
    A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

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

    Pubblicazione 2017
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  18. 18
    Mutations in the V‐ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease

    Mutations in the V‐ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease di M Serio, Laurie A. Graham, Angel Ashikov, Lars Elmann Larsen, Kimiyo Raymond, Sharita Timal, Gwenn Le Meur, Margret Ryan, E. Czarnowska, Jos C. Jansen, Miao He, Can Fıçıcıoğlu, Pavel N. Pichurin, Linda Hasadsri, Berge A. Minassian, Alessandra Rugierri, Hannu Kalimo, W. Alfredo Ríos‐Ocampo, Christian Gilissen, Richard J. Rodenburg, Johan W. Jonker, Adriaan G. Holleboom, Éva Morava, Joris A. Veltman, Piotr Socha, Tom H. Stevens, Matias Simons, Dirk J. Lefeber

    Pubblicazione 2020
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  19. 19
    A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency

    A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency di Barbara K. Burton, Manisha Balwani, François Feillet, Ivo Barić, T. Burrow, C. Camarena Grande, Mahmut Çöker, Alejandra Consuelo‐Sánchez, Patrick Deegan, Maja Di Rocco, Gregory M. Enns, Richard W. Erbe, Fatih Süheyl Ezgü, Can Fıçıcıoğlu, Katryn N. Furuya, John P. Kane, Christina M. Laukaitis, Eugen Mengel, Edward Neilan, S. L. Nightingale, Heidi Peters, Maurizio Scarpa, Karl Otfried Schwab, Vratislav Smolka, Vassili Valayannopoulos, Marnie J. Wood, Zachary Goodman, Yijun Yang, Stephen Eckert, Sandra Rojas-Caro, Anthony G. Quinn

    Pubblicazione 2015
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  20. 20
    Structural Variation of Chromosomes in Autism Spectrum Disorder

    Structural Variation of Chromosomes in Autism Spectrum Disorder di Christian R. Marshall, Abdul Noor, John B. Vincent, Anath C. Lionel, Lars Feuk, Jennifer Skaug, Mary Shago, Rainald Moessner, Dalila Pinto, Yan Ren, Bhooma Thiruvahindrapduram, Andreas Fiebig, Stefan Schreiber, Jan M. Friedman, Cees Ketelaars, Yvonne J. Vos, Can Fıçıcıoğlu, Susan J. Kirkpatrick, Rob Nicolson, Leon Sloman, Anne Summers, Clare Gibbons, Ahmad S. Teebi, David Chitayat, Rosanna Weksberg, Ann Thompson, Cathy Vardy, Vicki Crosbie, Sandra Luscombe, Rebecca Baatjes, Lonnie Zwaigenbaum, Wendy Roberts, Bridget A. Fernandez, Peter Szatmari, Stephen W. Scherer

    Pubblicazione 2008
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