Search Results - Shawn E. McCandless

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  1. 1
    The Burden of Genetic Disease on Inpatient Care in a Children’s Hospital

    The Burden of Genetic Disease on Inpatient Care in a Children’s Hospital by Shawn E. McCandless, Jeanne W. Brunger, Suzanne B. Cassidy

    Published 2004
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  2. 2
    The Global Prader–Willi Syndrome Registry: Development, Launch, and Early Demographics

    The Global Prader–Willi Syndrome Registry: Development, Launch, and Early Demographics by Jessica Bohonowych, Jennifer Miller, Shawn E. McCandless, Theresa V. Strong

    Published 2019
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  3. 3
    Molecular Mechanism of Angelman Syndrome in Two Large Families Involves an Imprinting Mutation

    Molecular Mechanism of Angelman Syndrome in Two Large Families Involves an Imprinting Mutation by Tohru Ohta, Karin Buiting, Hannaleena Kokkonen, Shawn E. McCandless, Shauna Heeger, H. Leisti, Daniel J. Driscoll, Suzanne B. Cassidy, Bernhard Horsthemke, Robert D. Nicholls

    Published 1999
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  4. 4
    Glycerol phenylbutyrate treatment in children with urea cycle disorders: Pooled analysis of short and long-term ammonia control and outcomes

    Glycerol phenylbutyrate treatment in children with urea cycle disorders: Pooled analysis of short and long-term ammonia control and outcomes by Susan A. Berry, Uta Lichter‐Konecki, George A. Díaz, Shawn E. McCandless, William J. Rhead, Wendy E. Smith, Cynthia LeMons, Sandesh C.S. Nagamani, Dion F. Coakley, Masoud Mokhtarani, Bruce F. Scharschmidt, Brendan Lee

    Published 2014
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  5. 5
    Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency*

    Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Iden... by Brage Storstein Andresen, Steve F. Dobrowolski, Linda P. O’Reilly, Joseph Muenzer, Shawn E. McCandless, Dianne M. Frazier, Szabolcs Udvari, Peter Bross, Inga Knudsen, Rick Banas, Donald H. Chace, Paul C. Engel, Edwin W. Naylor, Niels Gregersen

    Published 2001
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  6. 6
    Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders

    Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders by Roland Posset, Andrea Gropman, Sandesh C.S. Nagamani, Lindsay C. Burrage, Jirair K. Bedoyan, Derek A. Wong, Susan A. Berry, Matthias R. Baumgartner, Marc Yudkoff, Matthias Zielonka, Georg F. Hoffmann, Peter Burgard, Andreas Schulze, Shawn E. McCandless, Ángeles García‐Cazorla, Jennifer Seminara, Sven F. Garbade, Stefan Kölker

    Published 2019
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  7. 7
    Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases

    Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases by Roland Posset, Sven F. Garbade, Nikolas Boy, Alberto Burlina, Carlo Dionisi‐Vici, Dries Dobbelaere, Ángeles García‐Cazorla, Pascale de Lonlay, Elisa Leão Teles, Roshni Vara, Nicholas Ah Mew, Mark L. Batshaw, Matthias R. Baumgartner, Shawn E. McCandless, Jennifer Seminara, Marshall Summar, Georg F. Hoffmann, Stefan Kölker, Peter Burgard

    Published 2019
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  8. 8
    Effects of <scp>MetAP2</scp> inhibition on hyperphagia and body weight in Prader–Willi syndrome: A randomized, double‐blind, placebo‐controlled trial

    Effects of <scp>MetAP2</scp> inhibition on hyperphagia and body weight in Prader–Willi syndrome: A randomized, double‐blind, placebo‐controlled trial by Shawn E. McCandless, Jack A. Yanovski, Jennifer Miller, Cary Fu, Lynne M. Bird, Parisa Salehi, Christine L. Chan, Diane Stafford, M. Jennifer Abuzzahab, David Viskochil, Sarah E. Barlow, Moris Angulo, S Myers, Barbara Y. Whitman, Dennis M. Styne, Elizabeth Roof, Elisabeth M. Dykens, Ann Scheimann, Jaret Malloy, Dongliang Zhuang, Kristin Taylor, Thomas E. Hughes, Dennis Dong Hwan Kim, Merlin G. Butler

    Published 2017
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  9. 9
    Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium

    Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium by Jennifer Seminara, Mendel Tuchman, Lauren Krivitzky, Jeffrey P. Krischer, Hye Seung Lee, Cynthia LeMons, Matthias R. Baumgartner, Stephen Cederbaum, George A. Díaz, Annette Feigenbaum, Renata C. Gallagher, Cary O. Harding, Douglas S. Kerr, Brendan C. Lanpher, Brendan Lee, Uta Lichter‐Konecki, Shawn E. McCandless, J. Lawrence Merritt, Mary Lou Oster‐Granite, Margretta R. Seashore, Tamar Stricker, Marshall Summar, Susan E. Waisbren, Marc Yudkoff, Mark L. Batshaw

    Published 2010
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  10. 10
    Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate

    Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate by George A. Díaz, Lauren Krivitzky, Masoud Mokhtarani, William J. Rhead, James Bartley, Annette Feigenbaum, Nicola Longo, William Berquist, Susan A. Berry, Renata C. Gallagher, Uta Lichter‐Konecki, Dennis Bartholomew, Cary O. Harding, Stephen Cederbaum, Shawn E. McCandless, Wendy E. Smith, Jerry Vockley, Stephen A. Bart, Mark Korson, David Kronn, Roberto Zori, Lawrence Merritt, Sandesh C. Sreenath Nagamani, Joseph Mauney, Cynthia LeMons, Klara Dickinson, Tristen Moors, Dion F. Coakley, Bruce F. Scharschmidt, Brendan Lee

    Published 2012
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  11. 11
    Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders

    Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders by Masoud Mokhtarani, George A. Díaz, William J. Rhead, Uta Lichter‐Konecki, James Bartley, Annette Feigenbaum, Nicola Longo, William Berquist, Susan A. Berry, Renata C. Gallagher, Dennis Bartholomew, Cary O. Harding, Mark Korson, Shawn E. McCandless, Wendy E. Smith, Jerry Vockley, Stephen A. Bart, David Kronn, Roberto Zori, Stephen Cederbaum, Naghmeh Dorrani, J. Lawrence Merritt, Sandesh Sreenath-Nagamani, Marshall Summar, Cynthia LeMons, Klara Dickinson, Dion F. Coakley, Tristen Moors, B. Lee, Bruce F. Scharschmidt

    Published 2012
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  12. 12
    Diazoxide Choline Extended-Release Tablet in People With Prader-Willi Syndrome: A Double-Blind, Placebo-Controlled Trial

    Diazoxide Choline Extended-Release Tablet in People With Prader-Willi Syndrome: A Double-Blind, Placebo-Controlled Trial by Jennifer Miller, Evelien Gevers, Nicola Bridges, Jack A. Yanovski, Parisa Salehi, Kathryn Obrynba, Eric I. Felner, Lynne M. Bird, Ashley H. Shoemaker, Moris Angulo, Merlin G. Butler, David A. Stevenson, Jennifer Abuzzahab, Timothy Barrett, Melissa Lah, Elizabeth Littlejohn, Verghese Mathew, Neil Cowen, Anish Bhatnagar, Urmi Das, Amy Fleischman, Anthony P. Goldstone, Katerina Harwood, Prof Anthony Holland, Virginia Kimonis, Shawn E. McCandless, Lori Anne Schillaci, Mohammed Shaikh, Heidi Shea, David Viskochil, John Wilding

    Published 2023
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  13. 13
    Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial

    Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial by Elizabeth Roof, Cheri Deal, Shawn E. McCandless, Ronald L. Cowan, Jennifer Miller, Jill Hamilton, Elizabeth Roeder, Shana E. McCormack, Tamanna Roshan Lal, Hussein Abdullatif, Andrea M. Haqq, Kathryn Obrynba, Laura Torchen, Alaina P. Vidmar, David Viskochil, Jean‐Pierre Chanoine, Carol Lam, Melinda Pierce, Laurel L. Williams, Lynne M. Bird, Merlin G. Butler, D. E. Jensen, S Myers, Oliver Oatman, Charumathi Baskaran, Laura Chalmers, Cary Fu, Nathalie Alos, Scott D. McLean, Ajay M. Shah, Barbara Y. Whitman, Brent A. Blumenstein, Sarah F Leonard, Jessica P Ernest, Joseph W. Cormier, Sara P. Cotter, Davis C. Ryman

    Published 2023
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  14. 14
    Automated syndrome diagnosis by three-dimensional facial imaging

    Automated syndrome diagnosis by three-dimensional facial imaging by Benedikt Hallgrímsson, J. David Aponte, David C. Katz, Jordan J. Bannister, Sheri L. Riccardi, Nick Mahasuwan, Brenda McInnes, Tracey M. Ferrara, Danika Lipman, Amanda Neves, Jared A.J. Spitzmacher, Jacinda R. Larson, Gary A. Bellus, Anh Minh Pham, Elias Aboujaoude, Tim A. Benke, Kathryn C. Chatfield, Shanlee Davis, Ellen Roy Elias, Robert W. Enzenauer, Brooke French, Laura Pickler, Joseph T.C. Shieh, Anne Slavotinek, A. Robertson Harrop, A. Micheil Innes, Shawn E. McCandless, Emily A. McCourt, Naomi Meeks, Nicole Tartaglia, Anne Tsai, J. P. H. Wyse, Jonathan A. Bernstein, Pedro A. Sanchez‐Lara, Nils D. Forkert, François Bernier, Richard A. Spritz, Ophir D. Klein

    Published 2020
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  15. 15
    DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

    DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency by Clare V. Logan, Jennie Murray, David Parry, Andrea Robertson, Roberto Bellelli, Žygimantė Tarnauskaitė, Rachel Challis, Louise Cleal, Valérie Borel, Adeline Fluteau, Javier Santoyo‐López, Timothy J. Aitman, Inês Barroso, Donald Basel, Louise S. Bicknell, Himanshu Goel, Hao Hu, Chad Huff, Michele R. Hutchison, Caroline Joyce, Rachel Knox, Amy E. Lacroix, Sylvie Langlois, Shawn E. McCandless, Julie McCarrier, Kay Metcalfe, Rose Morrissey, Nuala Murphy, Irène Netchine, Susan O’Çonnell, Ann Haskins Olney, Nandina Paria, Jill A. Rosenfeld, Mark Sherlock, Erin Syverson, Perrin C. White, Carol A. Wise, Yao Yu, Margaret Zacharin, Indraneel Banerjee, Martin A.M. Reijns, Michael B. Bober, Robert K. Semple, Simon J. Boulton, Jonathan J. Rios, Andrew P. Jackson, Timothy J. Aitman, Andrew V. Biankin, Susanna L. Cooke, Wendy Inglis Humphrey, Sancha Martin, Lynne J. Mennie, Alison Meynert, Zosia Miedzybrodzka, Fiona Murphy, Craig Nourse, Javier Santoyo‐López, Colin A. Semple, Nicola Williams

    Published 2018
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  16. 16
    Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire

    Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire by Sarah C. Grünert, Terry G. J. Derks, Katarina Adrian, Khalid Al‐Thihli, Diana Ballhausen, Joanna Bidiuk, Andrea Bordugo, Monica Boyer, Drago Bratkovic, Michaela Brunner‐Krainz, Alberto Burlina, Anupam Chakrapani, Willemijn E. Corpeleijn, Alison Cozens, Charlotte Dawson, Helena Dhamko, Maja Djordjevic Milosevic, Hernán Eiroa, Yael Finezilber, Carolina Fischinger Moura de Souza, Maria Concepción García‐Jiménez, Serena Gasperini, Dorothea Haas, Johannes Häberle, Rebecca Halligan, Law Hiu Fung, Alexandra Hörbe‐Blindt, Laura Horka, Martina Huemer, Sema Kalkan Uçar, Bozica Kecman, Sebile Kılavuz, Gergely Kriván, Martin Lindner, Natalia Lüsebrink, Konstantinos Makrilakis, Anne Mei Kwun Kwok, Esther M. Maier, Arianna Maiorana, Shawn E. McCandless, John James Mitchell, Hiroshi Mizumoto, Helen Mundy, Carlos Ochôa, Kathryn Pierce, Pilar Quijada Fraile, Debra S. Regier, Alessandro Rossi, René Santer, Hester C. Schuman, Piotr Sobieraj, Johannes Spenger, Ronen Spiegel, Karolina M. Stępień, Galit Tal, Mojca Žerjav Tanšek, Ana Drole Torkar, Michel Tchan, Santhosh Thyagu, Samantha A. Schrier Vergano, Erika Vucko, Natalie Weinhold, Petra Zsidegh, Saskia B. Wortmann

    Published 2022
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