Resultados de búsqueda - Annette Feigenbaum

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  1. 1
    Arginase I deficiency: Severe infantile presentation with hyperammonemia: More common than reported?

    Arginase I deficiency: Severe infantile presentation with hyperammonemia: More common than reported? por Shailly Jain‐Ghai, Sandesh C.S. Nagamani, Susan Blasér, Komudi Siriwardena, Annette Feigenbaum

    Publicado 2011
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  2. 2
    Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome

    Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome por Jennifer J. Johnston, Richard I. Kelley, Annette Feigenbaum, Gerald F. Cox, Geeta Iyer, Vicky L. Funanage, Roy Proujansky

    Publicado 1997
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  3. 3
    Phospholipid abnormalities in children with Barth syndrome

    Phospholipid abnormalities in children with Barth syndrome por Michael Schlame, Richard I. Kelley, Annette Feigenbaum, Jeffrey A. Towbin, Paul M. Heerdt, Thomas Schieble, Ronald J. A. Wanders, Salvatore DiMauro, Thomas J. J. Blanck

    Publicado 2003
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  4. 4
    Ammonia control in children with urea cycle disorders (UCDs); Phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate

    Ammonia control in children with urea cycle disorders (UCDs); Phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate por Uta Lichter‐Konecki, George A. Díaz, J. Lawrence Merritt, Annette Feigenbaum, Claudia Jomphe, Jean‐Francois Marier, Martin Béliveau, Joe Mauney, Klara Dickinson, Antonia Martínez, Masoud Mokhtarani, Bruce F. Scharschmidt, William J. Rhead

    Publicado 2011
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  5. 5
    A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome

    A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome por Frank Rutsch, Mary MacDougall, Changming Lu, Insa Buers, Olga Mamaeva, Yvonne Nitschke, Gillian Rice, Heidi Erlandsen, Hans-Gerd Kehl, Hölger Thiele, Peter Nürnberg, Wolfgang Höhne, Yanick J. Crow, Annette Feigenbaum, Raoul C. Hennekam

    Publicado 2015
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  6. 6
    A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency

    A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency por Georgianne L. Arnold, Johan Van Hove, Debra Freedenberg, Arnold W. Strauss, Nicola Longo, Barbara K. Burton, Cheryl Garganta, Can Fıçıcıoğlu, Stephen Cederbaum, Cary O. Harding, Richard G. Boles, Dietrich Matern, Pranesh Chakraborty, Annette Feigenbaum

    Publicado 2009
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  7. 7
    Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy

    Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy por Sietske H. Kevelam, Marianna Bugiani, Gajja S. Salomons, Annette Feigenbaum, Susan Blasér, Chitra Prasad, Johannes Häberle, Ivo Barić, Ingrid Bakker, Nienke L. Postma, Warsha A. Kanhai, Nicole I. Wolf, Truus E. M. Abbink, Quinten Waisfisz, Peter Heutink, Marjo S. van der Knaap

    Publicado 2013
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  8. 8
    Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene

    Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene por Diane B. Zastrow, Heather Baudet, Wei Shen, Amanda Thomas‐Wilson, Yue Si, Meredith Weaver, Angela M. Lager, Jixia Liu, Rachel Mangels, Selina S. Dwight, Matt W. Wright, Steven F. Dobrowolski, Karen Eilbeck, Gregory M. Enns, Annette Feigenbaum, Uta Lichter‐Konecki, Elaine Lyon, Marzia Pasquali, Michael S. Watson, Nenad Blau, Robert D. Steiner, William J. Craigen, Rong Mao

    Publicado 2018
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  9. 9
    The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study

    The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study por Maria D. Karaceper, Pranesh Chakraborty, Doug Coyle, Kumanan Wilson, Jonathan B. Kronick, Steven Hawken, Christine Davies, Marni Brownell, Linda Dodds, Annette Feigenbaum, Deshayne B. Fell, Scott D. Grosse, Astrid Guttmann, Anne‐Marie Laberge, Aizeddin A. Mhanni, Fiona A. Miller, John J. Mitchell, Meranda Nakhla, Chitra Prasad, Cheryl R. Greenberg, Rebecca Sparkes, Brenda J. Wilson, Beth K. Potter

    Publicado 2016
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  10. 10
    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 por 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

    Publicado 2010
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  11. 11
    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 por 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

    Publicado 2012
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  12. 12
    Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders

    Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders por 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

    Publicado 2012
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  13. 13
    Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

    Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society por Sumit Parikh, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Irina Anselm, Catherine Brunel‐Guitton, John Christodoulou, Bruce H. Cohen, David Dimmock, Gregory M. Enns, Marni J. Falk, Annette Feigenbaum, Richard E. Frye, Jaya Ganesh, David A. Griesemer, Richard Haas, Rita Horváth, Mark Korson, Michael C. Kruer, Michelangelo Mancuso, Shana E. McCormack, Marie Josée Raboisson, Tyler Reimschisel, Ramona Salvarinova, Russell P. Saneto, Fernando Scaglia, John M. Shoffner, Peter W. Stacpoole, Carolyn M. Sue, Mark A. Tarnopolsky, Clara van Karnebeek, Lynne A. Wolfe, Zarazuela Zolkipli Cunningham, Shamima Rahman, Patrick F. Chinnery

    Publicado 2017
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  14. 14
    A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases

    A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases por Stephen F. Kingsmore, Laurie D. Smith, Chris M. Kunard, Matthew Bainbridge, Serge Batalov, Wendy Benson, Eric Blincow, Sara Caylor, Christina Chambers, Guillermo del Angel, David Dimmock, Yan Ding, Katarzyna A. Ellsworth, Annette Feigenbaum, Erwin Frise, Robert C. Green, Lucia Guidugli, Kevin P. Hall, Christian Holm Hansen, Charlotte A. Hobbs, Scott D. Kahn, Mark J. Kiel, Lucita Van Der Kraan, Chad Krilow, Yong Hyun Kwon, Lakshminarasimha Madhavrao, Jennie Le, Sébastien Lefebvre, Rebecca Mardach, William R. Mowrey, Danny Oh, Mallory Owen, George S. Powley, Gunter Scharer, Seth Shelnutt, Mari Tokita, Shyamal Mehtalia, Albert Oriol, Stavros Papadopoulos, James C. Perry, Edwin F. Juarez, Erica Sanford Kobayashi, Steven J. Schwartz, Duke Tran, Martin G. Reese, Meredith S. Wright, Narayanan Veeraraghavan, Kristen Wigby, Mary Willis, Aaron R. Wolen, Thomas Defay

    Publicado 2022
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  15. 15
    Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

    Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy por Laura van Berge, Eline M. Hamilton, Tarja Linnankivi, G. Uziel, Marjan E. Steenweg, Pirjo Isohanni, Nicole I. Wolf, Ingeborg Krägeloh‐Mann, N. J. Brautaset, P. Ian Andrews, Brigit A. de Jong, Malak Al Ghamdi, Wessel N. van Wieringen, Bakhos A. Tannous, Esther Hulleman, T. Wurdinger, Carola G.M. van Berkel, Emiel Polder, Truus E. M. Abbink, Eduard A. Struys, Gert C. Scheper, Marjo S. van der Knaap, F. Alehan, Richard Appleton, Eugen Boltshauser, Knut Brockmann, E Calado, A. Carius, I.F.M. de Coo, Rudy Van Coster, S. El-Zind, Özdem Ertürk Çetin, Л. М. Фадеева, Annette Feigenbaum, Sarenur Gökben, Mark Gorman, Sheffali Gulati, P. Hnevsova, Kairit Joost, Wolfgang Köhler, Anneli Kolk, Wolfgang Kristoferitsch, Elizabeth Lemos Silveira, Jaime Lin, S. Lutz, Carla Mendonça, C. Nuttin, Thomas Opladen, M. Savoiardo, Raphael Schiffmann, Angelika Seitz, S V Serkov, Shruti Sharma, Sylvia Stöckler, I. Karen Temple, Kayıhan Uluç, S. Vojta, Guy Wilms, Betty Wong, Zühal Yapıcı

    Publicado 2014
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  16. 16
    An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

    An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases por Mallory Owen, Sébastien Lefebvre, Christian Holm Hansen, Chris M. Kunard, David Dimmock, Laurie D. Smith, Gunter Scharer, Rebecca Mardach, Mary Willis, Annette Feigenbaum, Anna‐Kaisa Niemi, Yan Ding, Luca Van Der Kraan, Katarzyna A. Ellsworth, Lucia Guidugli, Bryan R. Lajoie, Timothy K. McPhail, Shyamal Mehtalia, Kevin Chau, Yong Hyun Kwon, Zhanyang Zhu, Serge Batalov, Shimul Chowdhury, Seema Rego, James C. Perry, Mark Speziale, Mark Nespeca, Meredith S. Wright, Martin G. Reese, Francisco M. De La Vega, Joe Azure, Erwin Frise, Charlene Son Rigby, Sandy White, Charlotte A. Hobbs, Sheldon Gilmer, G. R. Knight, Albert Oriol, Jerica Lenberg, Shareef Nahas, Kate Perofsky, Kyu Kim, Jeanne Carroll, Nicole G. Coufal, Erica Sanford Kobayashi, Kristen Wigby, Jacqueline C. Weir, Vicki S. Thomson, Louise Fraser, Seka Lazare, Yoon H. Shin, Haiying Grunenwald, Richard Lee, David Jones, Duke Tran, Andrew M. Gross, Patrick Daigle, Anne Case, Marisa Lue, James A. Richardson, John Reynders, Thomas Defay, Kevin P. Hall, Narayanan Veeraraghavan, Stephen F. Kingsmore

    Publicado 2022
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  17. 17
    An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm

    An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm por David Dimmock, Michelle M. Clark, Mary Gaughran, Julie A. Cakici, Sara Caylor, Christina Clarke, Michele Feddock, Shimul Chowdhury, Lisa Salz, Cynthia Cheung, Lynne M. Bird, Charlotte A. Hobbs, Kristen Wigby, Lauge Farnaes, Cinnamon S. Bloss, Stephen F. Kingsmore, Matthew N. Bainbridge, Jaime Barea, Serge Batalov, Zaira Bezares, Lynne M. Bird, Cinnamon S. Bloss, Joshua J.A. Braun, Julie A. Cakici, Miguel Del Campo, Jeanne Carroll, Cynthia Cheung, Casey Cohenmeyer, Nicole G. Coufal, Carlos Bustamante, Yan Ding, Katarzyna A. Ellsworth, Marva Evans, Annette Feigenbaum, Jennifer Friedman, Joe Gleeson, Christian Holm Hansen, Jose Honold, Kiely N. James, Marilyn C. Jones, Amy Kimball, G. R. Knight, Lucitia Van Der Kraan, Brian R. Lane, Jennie Le, Sandra L. Leibel, Jerica Lenberg, Dana Mashburn, Laurel Moyer, Patrick Mulrooney, Shareef Nahas, Daeheon Oh, Daniken Orendain, Albert Oriol, Maria Ortiz-Arechiga, Lawrence S. Prince, Seema Rego, Iris Reyes, Erica Sanford Kobayashi, Charles W. Sauer, Leila K. Schwanemann, Mark Speziale, Denise Suttner, Nathaly M. Sweeney, Richard Song, Mari Tokita, Narayanan Veeraraghavan, Kelly Watkins, Terence C. Wong, Meredith S. Wright, Catherine Yamada

    Publicado 2020
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