Výsledky vyhledávání - Müge Güçsavaş‐Çalıkoğlu
- Zobrazuji výsledky 1 - 7 z 7
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1
Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations Autor 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
Vydáno 2017Revisão -
2
Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia Autor Sander M. Houten, Simone Denis, Heleen te Brinke, Aldo Jongejan, Antoine H. C. van Kampen, Edward J. Bradley, Frank Baas, Raoul C. M. Hennekam, David S. Millington, Sarah P. Young, Dianne M. Frazier, Müge Güçsavaş‐Çalıkoğlu, Ronald J. A. Wanders
Vydáno 2014Artigo -
3
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome) Autor Joseph Muenzer, J. E. Wraith, Michael Beck, Roberto Giugliani, Paul Harmatz, Christine M. Eng, Ashok Vellodi, Rick Martin, Uma Ramaswami, Müge Güçsavaş‐Çalıkoğlu, Suresh Vijayaraghavan, S. Wendt, Antonio Puga, B. Ulbrich, Marwan Shinawi, Maureen Cleary, Diane Piper, Ann Marie Conway, Alan Kimura
Vydáno 2006Artigo -
4
Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome Autor Joseph Muenzer, Michael Beck, Christine M. Eng, Roberto Giugliani, Paul Harmatz, Rick Martin, Uma Ramaswami, Ashok Vellodi, J. E. Wraith, Maureen Cleary, Müge Güçsavaş‐Çalıkoğlu, Ana Cristina Puga, Marwan Shinawi, Birgit Ulbrich, Suresh Vijayaraghavan, Susanne Wendt, Anne Conway, Alexandra Rossi, David Whiteman, Alan Kimura
Vydáno 2010Artigo -
5
Correction: Corrigendum: Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome Autor Joseph Muenzer, Michael Beck, Christine M. Eng, Roberto Giugliani, Paul Harmatz, Rick Martin, Uma Ramaswami, Ashok Vellodi, J. E. Wraith, Maureen Cleary, Müge Güçsavaş‐Çalıkoğlu, Ana Cristina Puga, Marwan Shinawi, Birgit Ulbrich, Suresh Vijayaraghavan, Susanne Wendt, Anne Conway, Alexandra Rossi, David Whiteman, Alan Kimura
Vydáno 2013Artigo -
6
An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening Autor Laura V. Milko, Julianne O’Daniel, Daniela M. DeCristo, Stephanie B. Crowley, Ann Katherine M. Foreman, Kathleen Wallace, Lonna Mollison, Natasha T. Strande, Zahra S. Girnary, Lacey Boshe, Arthur S. Aylsworth, Müge Güçsavaş‐Çalıkoğlu, Dianne M. Frazier, Neeta L. Vora, Myra I. Roche, Bradford C. Powell, Cynthia M. Powell, Jonathan S. Berg
Vydáno 2019Artigo -
7
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders Autor Ivana Lessel, Anja Barešić, Iván K. Chinn, Jonathan May, Anu Goenka, Kate Chandler, Jennifer E. Posey, Alexandra Afenjar, Luisa Averdunk, Maria Francesca Bedeschi, Thomas Besnard, Rae Brager, Lauren Brick, Melanie Brugger, Theresa Brunet, Susan Byrne, Oscar De La Calle-Martin, Valeria Capra, Paúl Cárdenas, Céline Chappé, Hey Chong, Benjamin Cogné, Erin Conboy, Heidi Cope, Thomas Courtin, Wallid Deb, Robertino Dilena, Christèle Dubourg, Magdeldin Elgizouli, Erica Fernandes, Kristi K. Fitzgerald, Silvana Gangi, Jaya K. George‐Abraham, Müge Güçsavaş‐Çalıkoğlu, Tobias B. Haack, Medard Hadonou, Britta Hanker, Irina Hüning, Maria Iascone, Bertrand Isidor, Irma Järvelä, Jay Jin, Alexander A.L. Jorge, Dragana Josifova, Ruta Kalinauskiene, Erik-Jan Kamsteeg, Boris Keren, E Kessler, Heike Kölbel, Mariya Kozenko, Christian Kubisch, Alma Kuechler, Suzanne M. Leal, Juha Leppälä, Sharon Luu, Gholson J. Lyon, Suneeta Madan-Khetarpal, Maria Margherita Mancardi, Elaine Marchi, Lakshmi Mehta, Beatriz Menéndez, Chantal F. Morel, Sue Moyer Harasink, Dayna‐Lynn Nevay, Vincenzo Nigro, Sylvie Odent, Renske Oegema, John Pappas, Matthew Pastore, Yezmin Perilla‐Young, Konrad Platzer, Nina Powell‐Hamilton, Rachel Rabin, Aisha Rekab, Raíssa Rezende, Leema Robert, Ferruccio Romano, Marcello Scala, Karin Poths, Isabelle Schrauwen, Jessica Sebastian, John Short, Richard Sidlow, Jennifer L. Sullivan, Katalin Szakszon, Queenie K.‐G. Tan, Matias Wagner, Dagmar Wieczorek, Bo Yuan, Nicole Maeding, Dirk Strunk, Amber Begtrup, Siddharth Banka, James R. Lupski, Eva Tolosa, Davor Lessel
Vydáno 2025Artigo
Vyhledávací nástroje:
Související témata
Internal medicine
Medicine
Biology
Disease
Gene
Hunter syndrome
Enzyme replacement therapy
Genetics
Mucopolysaccharidosis type II
Mutation
Newborn screening
Pediatrics
Physics
Surgery
Adverse effect
Age of onset
Alternative medicine
Asymptomatic
Biochemistry
Chromatin immunoprecipitation
Clinical endpoint
Clinical trial
Diffusing capacity
Economics
Enzyme
Exome sequencing
Gene expression
Gold standard (test)
Intensive care medicine
Lactic acidosis