Suchergebnisse - 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 von Can Fıçıcıoğlu

    Veröffentlicht 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 von Can Fıçıcıoğlu, Roseann Mandell, Vivian E. Shih

    Veröffentlicht 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) von Can Fıçıcıoğlu, Roberto Giugliani, Paul Harmatz, Nancy J. Mendelsohn, Virginie Jego, Rossella Parini

    Veröffentlicht 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 von Nicola Longo, Georgianne L. Arnold, Gabriella Pridjian, Gregory M. Enns, Can Fıçıcıoğlu, Susan Parker, Jessica Cohen‐Pfeffer

    Veröffentlicht 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... von Jie Chen, Xueli Li, Andrew C. Edmondson, Gail Ditewig Meyers, Kosuke Izumi, Amanda M. Ackermann, Éva Morava, Can Fıçıcıoğlu, Michael J. Bennett, Miao He

    Veröffentlicht 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... von 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

    Veröffentlicht 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 von 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

    Veröffentlicht 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 von 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

    Veröffentlicht 2017
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  9. 9
    Newborn Screening for Pompe Disease: Pennsylvania Experience

    Newborn Screening for Pompe Disease: Pennsylvania Experience von Can Fıçıcıoğlu, Rebecca C. Ahrens‐Nicklas, Joshua Barch, Sanmati Cuddapah, Brenda DiBoscio, James C. DiPerna, Patricia L. Gordon, Nadene Henderson, Caitlin Menello, Nicole Luongo, Damara Ortiz, Rui Xiao

    Veröffentlicht 2020
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  10. 10
    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? von 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

    Veröffentlicht 2022
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  11. 11
    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 von 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

    Veröffentlicht 2009
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  12. 12
    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 von 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

    Veröffentlicht 2012
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  13. 13
    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 von 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

    Veröffentlicht 2018
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  14. 14
    Epimerase-Deficiency Galactosemia Is Not a Binary Condition

    Epimerase-Deficiency Galactosemia Is Not a Binary Condition von 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

    Veröffentlicht 2005
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  15. 15
    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 von 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

    Veröffentlicht 2008
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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 von 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

    Veröffentlicht 2024
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  17. 17
    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 von 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

    Veröffentlicht 2024
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  18. 18
    A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

    A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients von 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

    Veröffentlicht 2017
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  19. 19
    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 von 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

    Veröffentlicht 2020
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  20. 20
    A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency

    A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency von 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

    Veröffentlicht 2015
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