Rezultati - Heidi Peters

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  1. 1
    Mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations

    Mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations od James Pitt, Heidi Peters, Avihu Boneh, Joy Yaplito‐Lee, Stefanie Wieser, Katrin Hinderhofer, David H. Johnson, Johannes Zschocke

    Izdano 2014
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  2. 2
    ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism

    ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism od Heidi Peters, Nicole E. Buck, Ronald J. A. Wanders, Jos P.N. Ruiter, Hans R. Waterham, Janet Koster, Joy Yaplito‐Lee, Sacha Ferdinandusse, James Pitt

    Izdano 2014
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  3. 3
    Cobalamin disorder Cbl‐C presenting with late‐onset thrombotic microangiopathy

    Cobalamin disorder Cbl‐C presenting with late‐onset thrombotic microangiopathy od Johan L.K. Van Hove, Rita Van Damme‐Lombaerts, Stephanie Grünewald, Heidi Peters, Boudewijn Van Damme, Jean‐Pierre Fryns, Jozef Arnout, Ron A. Wevers, E. R. Baumgartner, Brian Fowler

    Izdano 2002
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  4. 4
    Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease

    Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease od Laura E. Case, Carl Bjartmar, Claire Morgan, Robin Casey, Joel Charrow, John Clancy, Majed Dasouki, Stephanie DeArmey, Khan Nedd, Mary Nevins, Heidi Peters, Dawn Phillips, Zachary Spigelman, Cynthia J. Tifft, Priya S. Kishnani

    Izdano 2014
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  5. 5
    Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect

    Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect od Patrick Forny, Anke Schumann, Merima Mustedanagic, Déborah Mathis, Marie-Angela Wulf, Nadine Nägele, Claus-Dieter Langhans, Assem Zhakupova, Jöerg Heeren, Ludger Scheja, Ralph Fingerhut, Heidi Peters, Thorsten Hornemann, Beat Thöny, Stefan Kölker, Patricie Burda, D. Sean Froese, Olivier Devuyst, Matthias R. Baumgartner

    Izdano 2016
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  6. 6
    A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

    A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome od Sze Chern Lim, Katherine R. Smith, David A. Stroud, Alison G. Compton, Elena J. Tucker, Ayan Dasvarma, Luke C. Gandolfo, Justine E. Marum, Matthew McKenzie, Heidi Peters, David Mowat, Peter G. Procopis, Bridget Wilcken, John Christodoulou, Garry K. Brown, Michael T. Ryan, Melanie Bahlo, David R. Thorburn

    Izdano 2014
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  7. 7
    Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB

    Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB od İlyas Okur, Fatih Süheyl Ezgü, Roberto Giugliani, Nicole Muschol, Anja F. Koehn, Hernán Amartino, Paul Harmatz, María José de Castro López, María L. Couce, Shuan‐Pei Lin, Spyros Batzios, Maureen Cleary, Martha Solano, Heidi Peters, Joy Lee, Igor Nestrašil, Adam J. Shaywitz, Stephen M. Maricich, Bernice Kuca, Joseph Kovalchin, Eric Zanelli

    Izdano 2022
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  8. 8
    Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data

    Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data od Martina Huemer, Céline Bürer, Pavel Ješina, Viktor Kožich, Markus A. Landolt, Terttu Suormala, Brian Fowler, P. Augoustides‐ Savvopoulou, E Blair, Katarína Brennerová, Alexander Broomfield, L De Meirleir, Gülden Gökçay, Julia B. Hennermann, Philip Jardine, Johannes Koch, Stefan Lorenzl, Amelie S. Lotz‐Havla, Jochen Noss, Rossella Parini, Heidi Peters, Barbara Plecko, Francisco Javier Guerra Ramos, Andrea Schlune, Konstantinos Tsiakas, Mojca Žerjav Tanšek, Matthias R. Baumgartner

    Izdano 2014
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  9. 9
    Study of <i>LPIN1</i>, <i>LPIN2</i> and <i>LPIN3</i> in rhabdomyolysis and exercise‐induced myalgia

    Study of <i>LPIN1</i>, <i>LPIN2</i> and <i>LPIN3</i> in rhabdomyolysis and exercise‐induced myalgia od Caroline Michot, Laurence Hubert, Norma B. Romero, Amr S. Gouda, Asmaa Mamoune, Suja Ann Mathew, Edwin P. Kirk, Louis Viollet, Shamima Rahman, Soumeya Bekri, Heidi Peters, James M. McGill, Emma Glamuzina, Michelle A. Farrar, Maya der von Hagen, Ian E. Alexander, Brian Kirmse, Magalie Barth, Pascal Laforêt, Pascale Benlian, Arnold Münnich, Marc Jeanpierre, Orly Elpeleg, Ophry Pines, Agnès Delahodde, Yves de Keyzer, Pascale de Lonlay

    Izdano 2012
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  10. 10
    Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

    Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions od Tiong Yang Tan, Oliver James Dillon, Zornitza Stark, Deborah Schofield, Khurshid Alam, Rupendra Shrestha, Belinda Chong, Dean Phelan, Gemma R. Brett, Emma Creed, Anna Jarmolowicz, Patrick Yap, Maie Walsh, Lilian Downie, David J. Amor, Ravi Savarirayan, George McGillivray, Alison Yeung, Heidi Peters, Susan J. Robertson, Aaron Robinson, Ivan Macciocca, Simon Sadedin, Katrina M. Bell, Alicia Oshlack, Peter Georgeson, Natalie Thorne, Clara Gaff, Susan M. White

    Izdano 2017
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  11. 11
    A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

    A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders od Zornitza Stark, Tiong Yang Tan, Belinda Chong, Gemma R. Brett, Patrick Yap, Maie Walsh, Alison Yeung, Heidi Peters, Dylan Mordaunt, Shannon Cowie, David J. Amor, Ravi Savarirayan, George McGillivray, Lilian Downie, Paul G. Ekert, Christiane Theda, Paul A. James, Joy Yaplito‐Lee, Monique M. Ryan, Richard J. Leventer, Emma Creed, Ivan Macciocca, Katrina M. Bell, Alicia Oshlack, Simon Sadedin, Peter Georgeson, Charlotte Anderson, Natalie Thorne, Clara Gaff, Susan M. White

    Izdano 2016
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  12. 12
    A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency

    A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency od Barbara K. Burton, Manisha Balwani, François Feillet, Ivo Barić, T. Burrow, C. Camarena Grande, Mahmut Çöker, Alejandra Consuelo‐Sánchez, Patrick Deegan, Maja Di Rocco, Gregory M. Enns, Richard W. Erbe, Fatih Süheyl Ezgü, Can Fıçıcıoğlu, Katryn N. Furuya, John P. Kane, Christina M. Laukaitis, Eugen Mengel, Edward Neilan, S. L. Nightingale, Heidi Peters, Maurizio Scarpa, Karl Otfried Schwab, Vratislav Smolka, Vassili Valayannopoulos, Marnie J. Wood, Zachary Goodman, Yijun Yang, Stephen Eckert, Sandra Rojas-Caro, Anthony G. Quinn

    Izdano 2015
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  13. 13
    ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

    ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients od Bobby G. Ng, Sergey A. Shiryaev, Daisy Rymen, Erik A. Eklund, Kimiyo Raymond, Martin Kircher, José E. Abdenur, Füsun Alehan, Alina T. Midro, Michael J. Bamshad, Rita Barone, Gerard T. Berry, Jane E. Brumbaugh, Kati J. Buckingham, Katie Clarkson, F. Sessions Cole, Shawn O’Connor, Gregory M. Cooper, Rudy Van Coster, Laurie Demmer, Luísa Diogo, Alexander Fay, Can Fıçıcıoğlu, Agata Fiumara, William A. Gahl, Rebecca Ganetzky, Himanshu Goel, Lyndsay A. Harshman, Miao He, Jaak Jaeken, Philip James, Daniel Katz, Liesbeth Keldermans, Maria Kibæk, Andrew J. Kornberg, Katherine Lachlan, Christina Lam, Joy Yaplito‐Lee, Deborah A. Nickerson, Heidi Peters, Valérie Race, Luc Régal, Jeffrey S. Rush, S. Lane Rutledge, Jay Shendure, Erika Souche, Susan Sparks, Pamela Trapane, Amarilis Sanchez‐Valle, Éric Vilain, Arve Vøllo, Charles J. Waechter, Raymond Wang, Lynne A. Wolfe, Derek A. Wong, Tim Wood, Amy Yang, Gert Matthijs, Hudson H. Freeze

    Izdano 2016
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