JIMD Reports, Volume 21
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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JIMD Reports Volume 21
JIMD Reports Volume 21
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Johannes Zschocke Editor-in-Chief Matthias Baumgartner • Eva Morava • Marc Patterson • Shamima Rahman Editors Verena Peters Managing Editor
JIMD Reports Volume 21
Editor-in-Chief Johannes Zschocke Division of Human Genetics Medical University Innsbruck Innsbruck Austria Editor Matthias Baumgartner Division of Metabolism and Children’s Research Centre University Children’s Hospital Zurich Zurich Switzerland Editor Eva Morava Tulane University Medical School New Orleans Louisiana USA
Editor Marc Patterson Division of Child and Adolescent Neurology Mayo Clinic Rochester Minnesota USA Editor Shamima Rahman Clinical and Molecular Genetics Unit UCL Institute of Child Health London UK Managing Editor Verena Peters Center for Child and Adolescent Medicine Heidelberg University Hospital Heidelberg Germany
ISSN 2192-8304 ISSN 2192-8312 (electronic) JIMD Reports ISBN 978-3-662-47171-5 ISBN 978-3-662-47172-2 (eBook) DOI 10.1007/978-3-662-47172-2 Springer Heidelberg New York Dordrecht London # SSIEM and Springer-Verlag Berlin Heidelberg 2015 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, 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. The publisher, the authors and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made. Printed on acid-free paper Springer-Verlag GmbH Berlin Heidelberg is part of Springer Science+Business Media (www.springer.com)
Contents
Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVB . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 Tsutomu Shimada, Shunji Tomatsu, Robert W. Mason, Eriko Yasuda, William G. Mackenzie, Jobayer Hossain, Yuniko Shibata, Adriana M. Montan˜o, Francyne Kubaski, Roberto Giugliani, Seiji Yamaguchi, Yasuyuki Suzuki, Kenji E. Orii, Toshiyuki Fukao, and Tadao Orii Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 15 Monica F. Lamoureux, Kylie Tingley, Jonathan B. Kronick, Be
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