Canlyniadau Chwilio - Barbara K. Burton

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  1. 1
    Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls

    Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls gan Barbara K. Burton, Roberto Giugliani

    Cyhoeddwyd 2012
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  2. 2
    Survival in idursulfase‐treated and untreated patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS)

    Survival in idursulfase‐treated and untreated patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS) gan Barbara K. Burton, Virginie Jego, Jaromir Mikl, Simon Jones

    Cyhoeddwyd 2017
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  3. 3
    Mucopolysaccharidosis type <scp>III</scp> (<scp>S</scp>anfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder

    Mucopolysaccharidosis type <scp>III</scp> (<scp>S</scp>anfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism sp... gan Frits A. Wijburg, Grzegorz Węgrzyn, Barbara K. Burton, Anna Tylki‐Szymańska

    Cyhoeddwyd 2013
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  4. 4
    Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS)

    Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome... gan Joseph Muenzer, Jaco Botha, Paul Harmatz, Roberto Giugliani, Christoph Kampmann, Barbara K. Burton

    Cyhoeddwyd 2021
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  5. 5
    Mutation in <i>BAG3</i> causes severe dominant childhood muscular dystrophy

    Mutation in <i>BAG3</i> causes severe dominant childhood muscular dystrophy gan Duygu Selcen, Francesco Muntoni, Barbara K. Burton, Elena Pegoraro, Caroline A. Sewry, Anna V. Bite, Andrew G. Engel

    Cyhoeddwyd 2008
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  6. 6
    Long‐Term Sebelipase Alfa Treatment in Children and Adults With Lysosomal Acid Lipase Deficiency

    Long‐Term Sebelipase Alfa Treatment in Children and Adults With Lysosomal Acid Lipase Deficiency gan Barbara K. Burton, Alejandra Consuelo Sánchez, М. Н. Костылева, Ana María Martins, Sachin Marulkar, Florian Abel, Ivo Barić

    Cyhoeddwyd 2022
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  7. 7
    N-carbamylglutamate Markedly Enhances Ureagenesis in N-acetylglutamate Deficiency and Propionic Acidemia as Measured by Isotopic Incorporation and Blood Biomarkers

    N-carbamylglutamate Markedly Enhances Ureagenesis in N-acetylglutamate Deficiency and Propionic Acidemia as Measured by Isotopic Incorporation and Blood Biomarkers gan Mendel Tuchman, Ljubica Caldovic, Yevgeny Daikhin, Oksana Horyn, Ilana Nissim, Itzhak Nissim, Mark Korson, Barbara K. Burton, Marc Yudkoff

    Cyhoeddwyd 2008
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  8. 8
    Long‐term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series

    Long‐term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series gan Christina Lampe, Ann‐Kathrin Bosserhoff, Barbara K. Burton, Roberto Giugliani, Carolina F. de Souza, Camila Matzenbacher Bittar, Nicole Muschol, Rebecca Olson, Nancy J. Mendelsohn

    Cyhoeddwyd 2014
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  9. 9
    Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blind randomized discontinuation Phase 3 clinical trial

    Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blind randomized discontinuation Phase 3 clinical trial gan Cary O. Harding, Roberto Amato, Mary Stuy, Nicola Longo, Barbara K. Burton, John Posner, Haoling H. Weng, Markus Meriläinen, Zhonghua Gu, Joy Jiang, Jerry Vockley

    Cyhoeddwyd 2018
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  10. 10
    Genotype–phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey

    Genotype–phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey gan Joseph Muenzer, Hernán Amartino, Barbara K. Burton, Maurizio Scarpa, Anna Tylki‐Szymańska, Jennifer Audi, Jaco Botha, Daniel Fertek, David Merberg, Madhusudan Natarajan, David Whiteman, Roberto Giugliani

    Cyhoeddwyd 2024
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  11. 11
    Phenylalanine hydroxylase deficiency: diagnosis and management guideline

    Phenylalanine hydroxylase deficiency: diagnosis and management guideline gan Jerry Vockley, Hans C. Andersson, Kevin M. Antshel, Nancy Braverman, Barbara K. Burton, Dianne M. Frazier, John J. Mitchell, Wendy E. Smith, Barry H. Thompson, Susan A. Berry

    Cyhoeddwyd 2014
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  12. 12
    The role of enzyme replacement therapy in severe Hunter syndrome—an expert panel consensus

    The role of enzyme replacement therapy in severe Hunter syndrome—an expert panel consensus gan Joseph Muenzer, Olaf A. Bodamer, Barbara K. Burton, Lorne A. Clarke, Gudrun Schulze Frenking, Roberto Giugliani, Simon Jones, María Verónica Muñoz Rojas, Maurizio Scarpa, Michael Beck, Paul Harmatz

    Cyhoeddwyd 2011
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  13. 13
    Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management

    Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management gan Lorne A. Clarke, Andrea M. Atherton, Barbara K. Burton, Debra Day‐Salvatore, Paige Kaplan, Nancy D. Leslie, C. Ronald Scott, David W. Stockton, Janet A. Thomas, Joseph Muenzer

    Cyhoeddwyd 2016
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  14. 14
    Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease

    Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease gan 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

    Cyhoeddwyd 2018
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  15. 15
    Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria

    Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria gan Barbara K. Burton, Kyle Bradford Jones, Stephen D. Cederbaum, Fran Rohr, Susan E. Waisbren, Debra E. Irwin, Gilwan Kim, Joshua Lilienstein, Ignacio Alvarez, Elaina Jurecki, Harvey L. Levy

    Cyhoeddwyd 2018
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  16. 16
    Effects of triheptanoin (<scp>UX007</scp>) in patients with long‐chain fatty acid oxidation disorders: Results from an <scp>open‐label</scp>, <scp>long‐term</scp> extension study

    Effects of triheptanoin (<scp>UX007</scp>) in patients with long‐chain fatty acid oxidation disorders: Results from an <scp>open‐label</scp>, <scp>long‐term</scp> extension study... gan Jerry Vockley, Barbara K. Burton, Gerard T. Berry, Nicola Longo, John G. Phillips, Amarilis Sanchez‐Valle, Kimberly A. Chapman, Pranoot Tanpaiboon, Stephanie Grünewald, Elaine Murphy, Xiaoxiao Lu, Jason Cataldo

    Cyhoeddwyd 2020
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  17. 17
    Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial

    Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 do... gan Nicola Longo, Cary O. Harding, Barbara K. Burton, Dorothy K. Grange, Jerry Vockley, Melissa Wasserstein, Gregory M. Rice, Alejandro Dorenbaum, Jutta K. Neuenburg, Donald G. Musson, Zhonghua Gu, Saba Sile

    Cyhoeddwyd 2014
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  18. 18
    Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose

    Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose gan Ralph S. Lachman, Barbara K. Burton, Lorne A. Clarke, Scott A. Hoffinger, Shiro Ikegawa, Dong‐Kyu Jin, Hiroki Kano, Ok-Hwa Kim, Christina Lampe, Nancy J. Mendelsohn, Renée Shediac, Pranoot Tanpaiboon, Klane K. White

    Cyhoeddwyd 2014
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  19. 19
    Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo‐controlled study

    Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo‐controlled study gan Christian J. Hendriksz, Barbara K. Burton, Thomas R. Fleming, Paul Harmatz, Derralynn Hughes, Simon Jones, Hsiang‐Yu Lin, Eugen Mengel, Maurizio Scarpa, Vassili Valayannopoulos, Roberto Giugliani, Peter Slasor, Debra L. Lounsbury, Wolfgang Dummer

    Cyhoeddwyd 2014
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  20. 20
    Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study

    Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study gan Christian J. Hendriksz, Rossella Parini, Moeenaldeen AlSayed, Julian Raiman, Roberto Giugliani, John J. Mitchell, Barbara K. Burton, Norberto Guelbert, Fiona Stewart, Derralynn Hughes, Robert Matousek, Sara M. Hawley, Celeste Decker, Paul Harmatz

    Cyhoeddwyd 2017
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