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Expanded newborn screening identifies maternal primary carnitine deficiency
Molecular Genetics and Metabolism, 2007 Primary carnitine deficiency impairs fatty acid oxidation and can result in hypoglycemia, hepatic encephalopathy, cardiomyopathy and sudden death. We diagnosed primary carnitine deficiency in six unrelated women whose unaffected infants were identified with low free carnitine levels (C0) by newborn screening using tandem mass spectrometry.Lisa A, Schimmenti, Eric A, Crombez, Bernd C, Schwahn, Bryce A, Heese, Timothy C, Wood, Richard J, Schroer, Kristi, Bentler, Stephen, Cederbaum, Kiki, Sarafoglou, Mark, McCann, Piero, Rinaldo, Dietrich, Matern, Cristina Amat, di San Filippo, Marzia, Pasquali, Susan A, Berry, Nicola, Longo +15 moreopenaire +2 more sourcesSystemic Primary Carnitine Deficiency
2014 Primary systemic carnitine deficiency is a potentially lethal but very treatable inborn error of fatty acid oxidation, which is due to a defect in the high-affinity carnitine transporter (OCTN2) expressed in the muscle, heart, kidney, lymphoblasts, and fibroblasts.openaire +1 more sourcePrimary systemic carnitine dehciency. II. Renal handling of carnitine
Neurology, 1981 Renal tubular reabsorption rates, reabsorptive maxima, and apparent renal plasma excretory thresholds for carnitine were determined in four children with primary systemic carnitine deficiency (SCD), in two of the mothers of these children, in one patient with muscle carnitine deficiency (MCD), and in seven controls. In SCD the observed values were well A G, Engel, C J, Rebouche, D M, Wilson, A M, Glasgow, C A, Romshe, R P, Cruse +5 moreopenaire +2 more sourcesLate onset primary systemic carnitine deficiency exacerbated by carnitine-free parenteral nutrition
Clinical Nutrition, 1992 We describe a 21-year-old male with previously normal plasma total and free carnitine levels who developed a deficiency manifest by decreased plasma and muscle total and free carnitine, decreased urine carnitine, severe hepatic steatosis, mediastinal lipomatosis, progressively impaired triglyceride clearance, myopathy and intermittent hypoglycemia ...A L, Buchman, H V, Vinters, S, Diethelm, M E, Ament, M A, Verity +4 moreopenaire +2 more sourcesPrimary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine Deficiency
2013 Although the diagnosis of a primary carnitine deficiency is usually based on a very low level of free and total carnitine (free carnitine: 1-5 muM, normal 20-55 muM) (Longo et al. 2006), we detected a patient via newborn screening with a total carnitine level 67 % of the normal value.de Boer, L., Kluijtmans, L.A.J., Kluijtmans, L.A.J., Morava, E., Morava, E. +4 moreopenaire Primary Carnitine Deficiency
2009 Markus Braun-Falco, Henry J. Mankin, Sharon L. Wenger, Markus Braun-Falco, Stephan DiSean Kendall, Gerard C. Blobe, Christoph K. Weber, Richard Lorenz, Guido Adler, David C. Whitcomb, Dhiraj Yadav, Johannes Bode, Martin Wabitsch, Klaus-Michael Debatin, Pamela Fischer Posovzsky, Akmal Hassan, Mosaad Megahed, Tord M. Lundgren, Markus Pfister, Hans-Peter Zenner, Rossana Berardi, Chiara Pierantoni, Mario Scartozzi, Stefano Cascinu, Geoffrey N. Hendy, Johannes Schwarz, Alexander Storch, John-John B. Schnog, Victor E. A. Gerdes, Susanne A. Schneider, Kailash P. Bhatia, Adriana C. Gittenberger-de Groot, Regina Bökenkamp, Marco C. DeRuiter, Alexander K. C. Leung, Andrew L. Wong, Undine E. Lang, Alexander K. C. Leung, Alexander K. C. Leung, Muammer Seyhan, Silke Hofmann, Leena Bruckner-Tuderman, Silke Hofmann, Leena Bruckner-Tuderman, Silke Hofmann, Leena Bruckner-Tuderman, Peter Kopp, Douglas Forrest, Emine Dibek Misirlioğlu, Nursel Alpan, Mark Oette, Massimo Imazio, Kavitha M. Chinnaiyan, Laxmi S. Mehta, Mushtaq A. Bhat, Javeed I. Bhat, Gerald Stöber, André Reis, Jan Rémi, Soheyl Noachtar, Karin Jurkat-Rott, Frank Lehmann-Horn, Marinella Holzhausen, Nathalie Vergnolle, Martin Schillinger, Hans-Jürgen Gdynia, Albert C. Ludolph, Thomas Namdar, Claus Ferdinand Eisenberger, Wolfram Trudo Knoefel, Pere Ginés, Mónica Guevara, Antonio L. Cuesta-Muñoz, Henk Eijer, Markus Böhm, Thomas A. Luger, Flemming Güttler, Per Guldberg, Richard Koch, Kathryn Moseley, Graeme Eisenhofer, Karel Pacak, James V. Leonard, Jaak Jaeken, Michael A. Becker, Ulrich Stephani, Kendall S. Frazier, Markus Böhm, Thomas A. Luger, Alexander K. C. Leung, Reginald S. Sauve, Verena Matejas, Martin Zenker, Alexander K. C. Leung, Alexander K. C. Leung, William Lane M. Robson, Stefan Beissert, Alexander K. C. Leung, William Lane M. Robson, Tom Y. Woo, Alexander K. C. Leung, Hugo Ten Cate, Richard W. Light, Patricia T. Bozza, Jorge I. Salluh, Michael A. Jantz, Sergio L. Vargas, Rade Tomic, Jesse Roman, Abdullah F. Mobeireek, Mohammad Khalid, Harrys A. Torres, Roy F. Chemaly, Rade Tomic, Jesse Roman, Richard W. Light, Angela Dispenzieri, Sabine Krause, Hanns Lochmüller, Julia Weihrauch, Thomas Krieg, Wolfgang Kühn, Gerd Walz, Georg H. Merker, Ralf Kubitz, Dieter Häussinger, John-John B. Schnog, Victor E. A. Gerdes, Giovanna Musco, Guido Stoll, Klaus V. Toyka, Alexander K. C. Leung, Alexander K. C. Leung, William Lane M. Robson, Markus Böhm, Thomas A. Luger, Elena Pischik, Raili Kauppinen, Jorge Frank, Thomas Schwarz, Manish Thapar, Herbert. L. Bonkovsky, Jeffrey C. Wagner, A. Gordon Smith, Maria Mela, Ulrich Thalheimer, Dimitrios Samonakis, Andrew K. Burroughs, Maria Mela, Ulrich Thalheimer, Dimitrios Samonakis, Andrew K. Burroughs, Yogesh M. Shastri, Jürgen M. Stein, Ronnen H. Segman, Arieh Y. Shalev, Giris Jacob, David Robertson, Alexander K. C. Leung, William Lane M. Robson, Alexander K. C. Leung, Katja Lampinen, Karolina Kublickiene, Risto Kaaja, Radosław Lenarczyk, Oskar Kowalski, Zbigniew Kalarus, Dan Wichterle, Alexander K. C. Leung, Jamie Maguire, Istvan Mody, Katrien Janssens, Filip Vanhoenacker, Wim Van Hul, Hans-Jürgen Gdynia, Albert C. Ludolph, James V. Leonard, Hugo Ten Cate, Karel Geboes, Gert Van Assche, Hugo Ten Cate, Jo H. M. Berden, Toin H. Van Kuppevelt, Angelique L. Rops, Hugo Ten Cate, Hugo Ten Cate, Jorge Frank, Thomas Schwarz, Christina M. Ambros-Rudolph, Valéria Lamounier-Zepter, Christie P. Thomas, Christie P. Thomas, Christie P. Thomas, Christian A. Koch, Lee S. Weinstein, Caroline Silve, Alexander K. C. Leung, Jouni Uitto, Qiujie Jiang, Alexander K. C. Leung +199 moreopenaire +1 more source
