Resultados de procura - Reid Sutton

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  1. 1
    Metabolomics in Clinical Practice: Improving Diagnosis and Informing Management

    Metabolomics in Clinical Practice: Improving Diagnosis and Informing Management por John D. Odom, V. Reid Sutton

    Publicado 2021
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  2. 2
    Sleepiness and sleep disordered breathing in Prader-Willi syndrome: relationship to genotype, growth hormone therapy, and body composition.

    Sleepiness and sleep disordered breathing in Prader-Willi syndrome: relationship to genotype, growth hormone therapy, and body composition. por Korwyn Williams, Ann Scheimann, V. Reid Sutton, Elizabeth Hayslett, Daniel G. Glaze

    Publicado 2008
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  3. 3
    Sleepiness and Sleep Disordered Breathing in Prader-Willi Syndrome: Relationship to Genotype, Growth Hormone Therapy, and Body Composition

    Sleepiness and Sleep Disordered Breathing in Prader-Willi Syndrome: Relationship to Genotype, Growth Hormone Therapy, and Body Composition por Korwyn Williams, Ann Scheimann, V. Reid Sutton, Elizabeth Hayslett, Daniel G. Glaze

    Publicado 2008
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  4. 4
    Neuroimaging aspects of Aicardi syndrome

    Neuroimaging aspects of Aicardi syndrome por Bobbi Hopkins, V. Reid Sutton, Richard A. Lewis, Ignatia Van den Veyver, Gary Clark

    Publicado 2008
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  5. 5
    <scp>P</scp> heno <scp>DB</scp> : A New Web‐Based Tool for the Collection, Storage, and Analysis of Phenotypic Features

    <scp>P</scp> heno <scp>DB</scp> : A New Web‐Based Tool for the Collection, Storage, and Analysis of Phenotypic Features por Ada Hamosh, Nara Sobreira, Julie Hoover‐Fong, V. Reid Sutton, Corinne D. Boehm, François Schiettecatte, David Valle

    Publicado 2013
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  6. 6
    Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis

    Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis por Joseph T. Alaimo, Kevin E. Glinton, Ning Liu, Jing Xiao, Yaping Yang, V. Reid Sutton, Sarah H. Elsea

    Publicado 2020
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  7. 7
    Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta

    Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta por Winnie Liu, Brendan Lee, Sandesh C.S. Nagamani, Lindsey Nicol, Frank Rauch, Eric T. Rush, V. Reid Sutton, Eric Orwoll

    Publicado 2023
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  8. 8
    Chronic Oral l-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions

    Chronic Oral l-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions por Marcus J. Miller, Bret L. Bostwick, Adam D. Kennedy, Taraka Donti, Qin Sun, V. Reid Sutton, Sarah H. Elsea

    Publicado 2016
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  9. 9
    Chromosome 1p36 Deletions: The Clinical Phenotype and Molecular Characterization of a Common Newly Delineated Syndrome

    Chromosome 1p36 Deletions: The Clinical Phenotype and Molecular Characterization of a Common Newly Delineated Syndrome por Stuart K. Shapira, Christopher McCaskill, Hope Northrup, Aimee S. Spikes, F.F.B. Elder, V. Reid Sutton, Julie R. Korenberg, Frank Greenberg, Lisa G. Shaffer

    Publicado 1997
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  10. 10
    Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism

    Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism por Adam D. Kennedy, Marcus J. Miller, Kirk Beebe, Jacob Wulff, Anne M. Evans, Luke A. D. Miller, V. Reid Sutton, Qin Sun, Sarah H. Elsea

    Publicado 2016
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  11. 11
    Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism

    Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism por Ning Liu, Jing Xiao, Charul Gijavanekar, Kirk L. Pappan, Kevin E. Glinton, Brian J. Shayota, Adam D. Kennedy, Qin Sun, V. Reid Sutton, Sarah H. Elsea

    Publicado 2021
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  12. 12
    Elucidation of the complex metabolic profile of cerebrospinal fluid using an untargeted biochemical profiling assay

    Elucidation of the complex metabolic profile of cerebrospinal fluid using an untargeted biochemical profiling assay por Adam D. Kennedy, Kirk L. Pappan, Taraka Donti, Anne M. Evans, Jacob Wulff, Luke A. D. Miller, V. Reid Sutton, Qin Sun, Marcus J. Miller, Sarah H. Elsea

    Publicado 2017
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  13. 13
    The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII

    The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII por Raymond Wang, José Francisco da Silva Franco, Jaime López‐Valdez, Esmeralda Martins, V. Reid Sutton, Chester B. Whitley, Lin Zhang, Tricia Cimms, Deborah Marsden, Agnieszka Jurecka, Paul Harmatz

    Publicado 2020
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  14. 14
    Review of the phenotypic spectrum associated with haploinsufficiency of <i>MYRF</i>

    Review of the phenotypic spectrum associated with haploinsufficiency of <i>MYRF</i> por Linda Rossetti, Kevin E. Glinton, Bo Yuan, Pengfei Liu, Nishitha R. Pillai, Elizabeth Mizerik, Pilar Magoulas, Jill A. Rosenfeld, Lefkothea Karaviti, V. Reid Sutton, Seema R. Lalani, Daryl A. Scott

    Publicado 2019
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  15. 15
    Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism

    Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism por Marcus J. Miller, Adam D. Kennedy, Andrea D. Eckhart, Lindsay C. Burrage, Jacob Wulff, Luke A. D. Miller, Michael V. Milburn, John Ryals, Arthur L. Beaudet, Qin Sun, V. Reid Sutton, Sarah H. Elsea

    Publicado 2015
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  16. 16
    State of the art review in gonadal dysgenesis: challenges in diagnosis and management

    State of the art review in gonadal dysgenesis: challenges in diagnosis and management por Bonnie McCann‐Crosby, Roshanak Mansouri, Jennifer E. Dietrich, Laurence B. McCullough, V. Reid Sutton, Elise G. Austin, Bruce J. Schlomer, David R. Roth, Lefkothea Karaviti, Sheila Gunn, John Hicks, Charles G. Macias

    Publicado 2014
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  17. 17
    Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

    Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12 por Sandesh C. Sreenath Nagamani, Ayelet Erez, Joseph Shen, Chumei Li, Elizabeth Roeder, Sarah K. Cox, Lefkothea Karaviti, Margret Pearson, Sung‐Hae Kang, Trilochan Sahoo, Seema R. Lalani, Paweł Stankiewicz, V. Reid Sutton, Sau Wai Cheung

    Publicado 2009
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  18. 18
    Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

    Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum por Taraka Donti, Gerarda Cappuccio, Leroy Hubert, Juanita Neira, Paldeep S. Atwal, Marcus J. Miller, Aaron L. Cardon, V. Reid Sutton, Brenda E. Porter, Fiona M. Baumer, Michael F. Wangler, Qin Sun, Lisa Emrick, Sarah H. Elsea

    Publicado 2016
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  19. 19
    Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review

    Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review por Nishitha R. Pillai, Bridget M. Stroup, Anna Poliner, Linda Rossetti, Brandy Rawls, Brian J. Shayota, Claudia Soler‐Alfonso, Hari Priya Tunuguntala, John A. Goss, William Craigen, Fernando Scaglia, V. Reid Sutton, Ryan Himes, Lindsay C. Burrage

    Publicado 2019
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  20. 20
    Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes

    Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes por Zhishuo Ou, Jonathan S. Berg, Hagith Yonath, Victoria B. Enciso, David T. Miller, Jonathan Picker, Tiffanee Lenzi, Catherine E. Keegan, V. Reid Sutton, John W. Belmont, A. Craig Chinault, James R. Lupski, Sau Wai Cheung, Elizabeth Roeder, Ankita Patel

    Publicado 2008
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