JIMD Reports - Case and Research Reports, 2012/1
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 Case and Research Reports, 2012/1
JIMD Reports Volume 4
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SSIEM
JIMD Reports – Case and Research Reports, 2012/1
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 978-3-642-25751-3 e-ISBN 978-3-642-25752-0 DOI 10.1007/978-3-642-25752-0 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
Female with Fabry Disease Unknowingly Donates Affected Kidney to Sister: A Call for Pre-transplant Genetic Testing. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 Lindsay S. Paull, Michael J. Lipinski, William G. Wilson, and Shawn E. Lipinski Mitochondrial Respiratory Chain Hepatopathies: Role of Liver Transplantation. A Case Series of Five Patients . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 5 Elisabeth De Greef, John Christodoulou, Ian E Alexander, Albert Shun, Edward V O’Loughlin, David R Thorburn, Vicki Jermyn, and Michael O Stormon Glycine and L-Arginine Treatment Causes Hyperhomocysteinemia in Cerebral Creatine Transporter Deficiency Patients . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 13 Cristina Villar, Jaume Campistol, Carmen Fons, Judith Armstrong, Anna Mas, Aida Ormazabal, and Rafael Artuch Cystic Fibrosis Newborn Screening: Distribution of Blood Immunoreactive Trypsinogen Concentrations in Hypertrypsinemic Neonates . . . . . . . . . . . . . . . . . . . 17 Valentina Paracchini, Manuela Seia, Sara Raimondi, Lucy Costantino, Patrizia Capasso, Luigi Porcaro, Carla Colombo, Domenico A Coviello, Tiziana Mariani, Emanuela Manzoni, Monica Sangiovanni, and Carlo Corbetta Gastrointestinal Phenotype of Fabry Disease in a Patient with Pseudoobstruction Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 25 Piotr Buda, Anna Wieteska-Klimczak, Janusz Ksiazyk, Piotr Gietka Anna Smorczewska-Kiljan, Maciej Pronicki, Barbara Czartoryska, and Anna Tylki-Szymanska Ge
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