Search Results - Marshall Summar

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  1. 1
    Neurological implications of urea cycle disorders

    Neurological implications of urea cycle disorders by Andrea Gropman, Marshall Summar, James V. Leonard

    Published 2007
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  2. 2
    A longitudinal study of urea cycle disorders

    A longitudinal study of urea cycle disorders by Mark L. Batshaw, Mendel Tuchman, Marshall Summar, Jennifer Seminara

    Published 2014
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  3. 3
    Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21‐year, multicentre study of acute hyperammonaemic episodes

    Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21‐year, multicentre study of acute hyperammonaemic episodes by Marshall Summar, Dries Dobbelaere, Saul W. Brusilow, Brendan Lee

    Published 2008
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  4. 4
    Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data

    Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data by Kimberly A. Chapman, Gwendolyn Gramer, Sarah Viall, Marshall Summar

    Published 2018
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  5. 5
    Effects of Meals High in Carbohydrate, Protein, and Fat on Ghrelin and Peptide YY Secretion in Prepubertal Children

    Effects of Meals High in Carbohydrate, Protein, and Fat on Ghrelin and Peptide YY Secretion in Prepubertal Children by Jefferson P. Lomenick, Maria S. Melguizo, Sabrina L. Mitchell, Marshall Summar, James W. Anderson

    Published 2009
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  6. 6
    Development and evaluation of a machine learning-based point-of-care screening tool for genetic syndromes in children: a multinational retrospective study

    Development and evaluation of a machine learning-based point-of-care screening tool for genetic syndromes in children: a multinational retrospective study by Antonio R. Porras, Kenneth N. Rosenbaum, Carlos Tor-Díez, Marshall Summar, Marius George Linguraru

    Published 2021
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  7. 7
    Rescue Treatment with L-Citrulline Inhibits Hypoxia-Induced Pulmonary Hypertension in Newborn Pigs

    Rescue Treatment with L-Citrulline Inhibits Hypoxia-Induced Pulmonary Hypertension in Newborn Pigs by Candice D. Fike, Anna Dikalova, Mark R. Kaplowitz, Gary Cunningham, Marshall Summar, Judy L. Aschner

    Published 2014
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  8. 8
    The incidence of urea cycle disorders

    The incidence of urea cycle disorders by Marshall Summar, Stefan Koelker, Debra Freedenberg, Cynthia Le Mons, Johannes Häberle, Hye‐Seung Lee, Brian Kirmse

    Published 2013
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  9. 9
    Rapid deployment of a telemedicine care model for genetics and metabolism during <scp>COVID</scp>‐19

    Rapid deployment of a telemedicine care model for genetics and metabolism during <scp>COVID</scp>‐19 by Natasha Shur, Shireen M. Atabaki, Monisha S. Kisling, Abir Tabarani, Clarence Williams, Jamie L. Fraser, Debra S. Regier, Marshall Summar

    Published 2020
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  10. 10
    L-Citrulline Attenuates Arrested Alveolar Growth and Pulmonary Hypertension in Oxygen-Induced Lung Injury in Newborn Rats

    L-Citrulline Attenuates Arrested Alveolar Growth and Pulmonary Hypertension in Oxygen-Induced Lung Injury in Newborn Rats by Arul Vadivel, Judy L. Aschner, G Rey-Parra, Jordan A. Magarik, Heng Zeng, Marshall Summar, Farah Eaton, Bernard Thébaud

    Published 2010
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  11. 11
    Neonatal Pulmonary Hypertension

    Neonatal Pulmonary Hypertension by DeLinda L. Pearson, Sheila Dawling, William F. Walsh, Jonathan L. Haines, Brian W. Christman, Amy Bazyk, Nathan R. Scott, Marshall Summar

    Published 2001
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  12. 12
    Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges

    Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges by Takeya Adachi, Ayman W. El‐Hattab, Ritu Jain, Katya A. Nogales Crespo, Camila I. Quirland Lazo, Maurizio Scarpa, Marshall Summar, Duangrurdee Wattanasirichaigoon

    Published 2023
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  13. 13
    <scp>l</scp>-Citrulline ameliorates chronic hypoxia-induced pulmonary hypertension in newborn piglets

    <scp>l</scp>-Citrulline ameliorates chronic hypoxia-induced pulmonary hypertension in newborn piglets by Madhumita Ananthakrishnan, Frances Barr, Marshall Summar, Heidi A. B. Smith, Mark R. Kaplowitz, Gary Cunningham, Jordan A. Magarik, Yongmei Zhang, Candice D. Fike

    Published 2009
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  14. 14
    Low plasma citrulline levels are associated with acute respiratory distress syndrome in patients with severe sepsis

    Low plasma citrulline levels are associated with acute respiratory distress syndrome in patients with severe sepsis by Lorraine B. Ware, Jordan A. Magarik, Nancy Wickersham, Gary Cunningham, Todd W. Rice, Brian W. Christman, Arthur P. Wheeler, Gordon R. Bernard, Marshall Summar

    Published 2013
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  15. 15
    Angiotensin converting enzyme gene polymorphism: Potential silencer motif and impact on progression in IgA nephropathy

    Angiotensin converting enzyme gene polymorphism: Potential silencer motif and impact on progression in IgA nephropathy by Tracy E. Hunley, Bruce A. Julian, John A. Phillips, Marshall Summar, Hiroaki Yoshida, Robert G. Horn, Nancy J. Brown, Agnes Fogo, Iekuni Ichikawa, Valentina Kon

    Published 1996
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  16. 16
    Nitric oxide precursors and congenital heart surgery: A randomized controlled trial of oral citrulline

    Nitric oxide precursors and congenital heart surgery: A randomized controlled trial of oral citrulline by Heidi A. B. Smith, Jeffrey A. Canter, Karla G. Christian, Davis C. Drinkwater, Frank G. Scholl, Brian W. Christman, Geraldine D. Rice, Frances Barr, Marshall Summar

    Published 2006
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  17. 17
    Mitochondrial haplogroups and peripheral neuropathy during antiretroviral therapy: an adult AIDS clinical trials group study

    Mitochondrial haplogroups and peripheral neuropathy during antiretroviral therapy: an adult AIDS clinical trials group study by Todd Hulgan, David W. Haas, Jonathan L. Haines, Marylyn D. Ritchie, Gregory K. Robbins, Robert W. Shafer, David B. Clifford, Asha Kallianpur, Marshall Summar, Jeffrey A. Canter

    Published 2005
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  18. 18
    γ-Glutamylcysteine ameliorates oxidative injury in neurons and astrocytes in vitro and increases brain glutathione in vivo

    γ-Glutamylcysteine ameliorates oxidative injury in neurons and astrocytes in vitro and increases brain glutathione in vivo by Truc M. Le, Haiyan Jiang, Gary Cunningham, Jordan A. Magarik, William Barge, M.C. Cato, Marcelo Farina, João Batista Teixeira da Rocha, Dejan Milatović, Eun-Sook Lee, Michael Aschner, Marshall Summar

    Published 2010
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  19. 19
    Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations

    Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations by Johannes Häberle, Oleg A. Shchelochkov, Jing Wang, Panagiotis Katsonis, Lynn Hall, Sara Reiss, Angela Eeds, Alecia Willis, Meeta Yadav, Samantha R Summar, Olivier Lichtarge, Vicente Rubio, Lee‐Jun C. Wong, Marshall Summar

    Published 2010
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  20. 20
    Cross-sectional multicenter study of patients with urea cycle disorders in the United States

    Cross-sectional multicenter study of patients with urea cycle disorders in the United States by Mendel Tuchman, Brendan Lee, Uta Lichter‐Konecki, Marshall Summar, Marc Yudkoff, Stephen D. Cederbaum, Douglas S. Kerr, George A. Díaz, Margaretta R. Seashore, Hye Seung Lee, Robert McCarter, Jeffrey P. Krischer, Mark L. Batshaw

    Published 2008
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