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There are 31709 results for: content related to: Inborn errors of creatine metabolism and epilepsy

  1. Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene

    Human Mutation

    Volume 35, Issue 4, April 2014, Pages: 462–469, Saadet Mercimek-Mahmutoglu, Joseph Ndika, Warsha Kanhai, Thierry Billette de Villemeur, David Cheillan, Ernst Christensen, Nathalie Dorison, Vickie Hannig, Yvonne Hendriks, Floris C. Hofstede, Laurence Lion-Francois, Allan M. Lund, Helen Mundy, Gaele Pitelet, Miquel Raspall-Chaure, Jessica A. Scott-Schwoerer, Katalin Szakszon, Vassili Valayannopoulos, Monique Williams and Gajja S. Salomons

    Version of Record online : 6 MAR 2014, DOI: 10.1002/humu.22511

  2. Disorders of creatine transport and metabolism

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 157, Issue 1, 15 February 2011, Pages: 72–78, Nicola Longo, Orly Ardon, Rena Vanzo, Elizabeth Schwartz and Marzia Pasquali

    Version of Record online : 9 FEB 2011, DOI: 10.1002/ajmg.c.30292

  3. You have free access to this content
    Synthesis and transport of creatine in the CNS: importance for cerebral functions

    Journal of Neurochemistry

    Volume 115, Issue 2, October 2010, Pages: 297–313, Elidie Béard and Olivier Braissant

    Version of Record online : 25 AUG 2010, DOI: 10.1111/j.1471-4159.2010.06935.x

  4. Treatable newborn and infant seizures due to inborn errors of metabolism

    Epileptic Disorders

    Volume 17, Issue 3, September 2015, Pages: 229–242, Jaume Campistol and Barbara Plecko

    Version of Record online : 1 OCT 2015, DOI: 10.1684/epd.2015.0754

  5. Defining the pathogenicity of creatine deficiency syndrome

    Human Mutation

    Volume 32, Issue 3, March 2011, Pages: 282–291, Patricia Alcaide, Begoña Merinero, Pedro Ruiz-Sala, Eva Richard, Rosa Navarrete, Ángela Arias, Antonia Ribes, Rafael Artuch, Jaume Campistol, Magdalena Ugarte and Pilar Rodríguez-Pombo

    Version of Record online : 8 FEB 2011, DOI: 10.1002/humu.21421

  6. Quantification of Creatine and Guanidinoacetate Using GC-MS and LC-MS/MS for the Detection of Cerebral Creatine Deficiency Syndromes

    Unit

    Current Protocols in Human Genetics

    17:17.3.1–17.3.18

    Sarah Young, Eduard Struys and Tim Wood

    Published Online : 1 JUL 2007, DOI: 10.1002/0471142905.hg1703s54

  7. Arginine–Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM

    Human Mutation

    Volume 37, Issue 9, September 2016, Pages: 926–932, Caro-Lyne DesRoches, Theodora Bruun, Peixiang Wang, Christian R. Marshall and Saadet Mercimek-Mahmutoglu

    Version of Record online : 27 JUN 2016, DOI: 10.1002/humu.23018

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    Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language

    Developmental Medicine & Child Neurology

    Volume 51, Issue 5, May 2009, Pages: 404–407, DECLAN J O’ROURKE, STEPHANIE RYAN, GAJJA SALOMONS, CORNELIS JAKOBS, AHMAD MONAVARI and MARY D KING

    Version of Record online : 6 JAN 2009, DOI: 10.1111/j.1469-8749.2008.03227.x

  9. Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation

    American Journal of Medical Genetics Part A

    Volume 133A, Issue 2, 1 March 2005, Pages: 122–127, H. Caldeira Araújo, W. Smit, N.M. Verhoeven, G.S. Salomons, S. Silva, R. Vasconcelos, H. Tomás, I. Tavares de Almeida, C. Jakobs and M. Duran

    Version of Record online : 13 JAN 2005, DOI: 10.1002/ajmg.a.30226

  10. Is there a role for routinely screening children with autism spectrum disorder for creatine deficiency syndrome?

    Autism Research

    Volume 3, Issue 5, October 2010, Pages: 268–272, Lv Wang, Manya T. Angley, Michael J. Sorich, Robyn L. Young, Ross A. McKinnon and Jacobus P. Gerber

    Version of Record online : 29 JUN 2010, DOI: 10.1002/aur.145

  11. Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families

    American Journal of Medical Genetics Part A

    Volume 132A, Issue 3, 30 January 2005, Pages: 288–295, G.M.S. Mancini, C.E. Catsman-Berrevoets, I.F.M. de Coo, F.K. Aarsen, J.H.J. Kamphoven, J.G. Huijmans, M. Duran, M.S. van der Knaap, C. Jakobs and G.S. Salomons

    Version of Record online : 22 DEC 2004, DOI: 10.1002/ajmg.a.30473

  12. Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids

    NMR in Biomedicine

    Volume 22, Issue 5, June 2009, Pages: 538–544, Udo F. H. Engelke, Maria Tassini, Joseph Hayek, Maaike de Vries, Appie Bilos, Antonio Vivi, Gianni Valensin, Sabrina Buoni, Raffaella Zannolli, Wim Brussel, Berry Kremer, Gajja S. Salomons, Monique J. B. M. Veendrick-Meekes, Leo A. J. Kluijtmans, Éva Morava and Ron A. Wevers

    Version of Record online : 13 MAR 2009, DOI: 10.1002/nbm.1367

  13. You have full text access to this OnlineOpen article
    Inborn errors of metabolism causing epilepsy

    Developmental Medicine & Child Neurology

    Volume 55, Issue 1, January 2013, Pages: 23–36, SHAMIMA RAHMAN, EMMA J FOOTITT, SOPHIA VARADKAR and PETER T CLAYTON

    Version of Record online : 24 SEP 2012, DOI: 10.1111/j.1469-8749.2012.04406.x

  14. You have free access to this content
    MR spectroscopy of muscle and brain in guanidinoacetate methyltransferase (GAMT)-deficient mice: Validation of an animal model to study creatine deficiency

    Magnetic Resonance in Medicine

    Volume 50, Issue 5, November 2003, Pages: 936–943, W. Klaas Jan Renema, Andreas Schmidt, Jack J.A. van Asten, Frank Oerlemans, Kurt Ullrich, Bé Wieringa, Dirk Isbrandt and Arend Heerschap

    Version of Record online : 24 OCT 2003, DOI: 10.1002/mrm.10627

  15. Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 15, 1 August 2007, Pages: 1771–1774, Roberta Battini, Anna Chilosi, Davide Mei, Manuela Casarano, M. Grazia Alessandrì, Vincenzo Leuzzi, Giovanni Ferretti, Michela Tosetti, M. Cristina Bianchi and Giovanni Cioni

    Version of Record online : 29 JUN 2007, DOI: 10.1002/ajmg.a.31827

  16. Ammonium alters creatine transport and synthesis in a 3D culture of developing brain cells, resulting in secondary cerebral creatine deficiency

    European Journal of Neuroscience

    Volume 27, Issue 7, April 2008, Pages: 1673–1685, Olivier Braissant, Laurène Cagnon, Florianne Monnet-Tschudi, Oliver Speer, Theo Wallimann, Paul Honegger and Hugues Henry

    Version of Record online : 31 MAR 2008, DOI: 10.1111/j.1460-9568.2008.06126.x

  17. Inherited Disease Studies by NMR

    Standard Article

    eMagRes

    Richard A. Iles

    Published Online : 15 JUN 2010, DOI: 10.1002/9780470034590.emrstm1106

  18. You have free access to this content
    Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake

    The Journal of Physiology

    Volume 591, Issue 2, January 2013, Pages: 571–592, C. I. Nabuurs, C. U. Choe, A. Veltien, H. E. Kan, L. J. C. van Loon, R. J. T. Rodenburg, J. Matschke, B. Wieringa, G. J. Kemp, D. Isbrandt and A. Heerschap

    Version of Record online : 14 JAN 2013, DOI: 10.1113/jphysiol.2012.241760

  19. You have full text access to this OnlineOpen article
    Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability

    American Journal of Medical Genetics Part A

    Volume 155, Issue 10, October 2011, Pages: 2446–2452, Maria Antonietta Mencarelli, Maria Tassini, Marzia Pollazzon, Antonio Vivi, Marco Calderisi, Michele Falco, Marco Fichera, Lucia Monti, Sabrina Buoni, Francesca Mari, Udo Engelke, Ron A. Wevers, Joussef Hayek and Alessandra Renieri

    Version of Record online : 9 SEP 2011, DOI: 10.1002/ajmg.a.34208

  20. Eye Tracking in Translation Process Research

    The Handbook of Translation and Cognition

    John W. Schwieter, Aline Ferreira, Pages: 248–264, 2017

    Published Online : 18 FEB 2017, DOI: 10.1002/9781119241485.ch14