JIMD Reports - Case and Research Reports, 2011/3
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemica
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SSIEM
JIMD Reports – Case and Research Reports, 2011/3
Editor Society for the Study of Inborn Errors of Metabolism c/o ACB Tooley St 130-132 SE1 2TU London United Kingdom
ISSN 2192-8304 e-ISSN 2192-8312 ISBN 978-3-642-24935-8 e-ISBN 978-3-642-24936-5 DOI 10.1007/978-3-642-24936-5 Springer Heidelberg Dordrecht London New York # SSIEM and Springer-Verlag Berlin Heidelberg 2012 This work is subject to copyright. All rights are reserved, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilm or in any other way, and storage in data banks. Duplication of this publication or parts thereof is permitted only under the provisions of the German Copyright Law of September 9, 1965, in its current version, and permission for use must always be obtained from Springer. Violations are liable to prosecution under the German Copyright Law. The use of general descriptive names, registered names, trademarks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. Printed on acid-free paper Springer is part of Springer Science+Business Media (www.springer.com)
Contents
Liver Failure with Coagulopathy, Hyperammonemia and Cyclic Vomiting in a Toddler Revealed to Have Combined Heterozygosity for Genes Involved with Ornithine Transcarbamylase Deficiency and Wilson Disease . . . . . . . . . . . . . . . . 1 Valerie Mira and Richard G. Boles Large Mitochondrial DNA Deletion in an Infant with Addison Disease. . . . . . . . . . . . 5 Gloria P. Duran, A. Martinez-Aguayo, H. Poggi, M. Lagos, D. Gutierrez, and P.R. Harris Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark . . . . . . . . . . . 11 Luise Borch, Allan Meldgaard Lund, Flemming Wibrand, Ernst Christensen, Charlotte Søndergaard, Birthe Gahrn, David Michael Hougaard, Brage Storstein Andresen, Niels Gregersen, and Rikke Katrine Jentoft Olsen Identification of Mutations and Evaluation of Cardiomyopathy in Turkish Patients with Primary Carnitine Deficiency . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 17 ¨ zgu¨l, T. Cos¸kun, D. Yu¨cel, M. Karaca, H.S. Sivri, A. Tokatli, M. Kilic, R.K. O M. S¸ahin, T. Karago¨z, and A. Dursun Kinetic Analyses Guide the Therapeutic Decision in a Novel Form of Moderate Aromatic Acid Decarboxylase Deficiency . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 25 M. Barth, V. Serre, L. Hubert, Y. Chaabouni, N. Bahi-Buisson, M. Cadoudal, D. Rabier, S. Nguyen The Tich, M. Ribeiro, D. Ricquier, A. Munnich, D. Bonneau, P. de Lonlay, and L. Christa Effect of Reduced Agalsidase Beta Dosage in Fabry Patients: The Australian Experience. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
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