JIMD Reports, Volume 17
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 17
JIMD Reports Volume 17
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Johannes Zschocke • K. Michael Gibson Editors-in-Chief Garry Brown • Eva Morava Editors Verena Peters Managing Editor
JIMD Reports Volume 17
Editor-in-Chief Johannes Zschocke Division of Human Genetics Medical University Innsbruck Innsbruck Austria
Editor Eva Morava Tulane University Medical School New Orleans Louisiana USA
Editor-in-Chief K. Michael Gibson WSU Division of Health Sciences Clinical Pharmacology Unit Spokane USA
Managing Editor Verena Peters Center for Child and Adolescent Medicine Heidelberg University Hospital Heidelberg Germany
Editor Garry Brown University of Oxford Department of Biochemistry Genetics Unit Oxford United Kingdom
ISSN 2192-8304 ISSN 2192-8312 (electronic) ISBN 978-3-662-44577-8 ISBN 978-3-662-44578-5 (eBook) DOI 10.1007/978-3-662-44578-5 Springer Heidelberg New York Dordrecht London # SSIEM and Springer-Verlag Berlin Heidelberg 2014 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. Exempted from this legal reservation are brief excerpts in connection with reviews or scholarly analysis or material supplied specifically for the purpose of being entered and executed on a computer system, for exclusive use by the purchaser of the work. Duplication of this publication or parts thereof is permitted only under the provisions of the Copyright Law of the Publisher’s location, in its current version, and permission for use must always be obtained from Springer. Permissions for use may be obtained through RightsLink at the Copyright Clearance Center. Violations are liable to prosecution under the respective Copyright Law. 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. While the advice and information in this book are believed to be true and accurate at the date of publication, neither the authors nor the editors nor the publisher can accept any legal responsibility for any errors or omissions that may be made. The publisher makes no warranty, express or implied, with respect to the material contained herein. Printed on acid-free paper Springer is part of Springer Science+Business Media (www.springer.com)
Contents
Reversible Keratopathy Due to Hypertyrosinaemia Following Intermittent Low-Dose Nitisinone in Alkaptonuria: A Case Report . . . . . . . . . . . . . . . . . . . . . . . . . 1 R.M.K. Stewart, M.C. Briggs, J.C. Jarvis, J.A. Gallagher, and L. Ranganath Sports in LCHAD Deficiency: Maximal
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