JIMD Reports, Volume 34
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 34
JIMD Reports Volume 34
Eva Morava Editor-in-Chief Matthias Baumgartner • Marc Patterson • Shamima Rahman • Johannes Zschocke Editors Verena Peters Managing Editor
JIMD Reports Volume 34
Editor-in-Chief Eva Morava Tulane University Medical School New Orleans Louisiana USA
Editor Shamima Rahman Clinical and Molecular Genetics Unit UCL Institute of Child Health London UK
Editor Matthias Baumgartner Division of Metabolism and Children’s Research Centre University Children’s Hospital Zurich Zurich Switzerland
Editor Johannes Zschocke Division of Human Genetics Medical University Innsbruck Innsbruck Austria
Editor Marc Patterson Division of Child and Adolescent Neurology Mayo Clinic Rochester Minnesota USA
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 978-3-662-55585-9 ISBN 978-3-662-55586-6 (eBook) DOI 10.1007/978-3-662-55586-6 # Society for the Study of Inborn Errors of Metabolism (SSIEM) 2017 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. The publisher remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Printed on acid-free paper This Springer imprint is published by Springer Nature The registered company is Springer-Verlag GmbH Germany The registered company address is: Heidelberger Platz 3, 14197 Berlin, Germany
Contents
Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype . . . . . . . . . . . . . . . Jun Sun, Angela J McGillivray, Jason Pinner, Zhihui Yan, Fengxia Liu, Drago Bratkovic, Elizabeth Thompson, Xiuxiu Wei, Huifeng Jiang, Asan, and Maya Chopra Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs . . . . . . . . . . . . . . Katarzyn
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