JIMD Reports - Case and Research Reports, 2011/1 Case and Research R
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 biochemical
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SSIEM
JIMD Reports Case and Research Reports, 2011/1
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 ISBN 978-3-642-17707-1 e-ISBN 978-3-642-17708-8 DOI 10.1007/978-3-642-17708-8 Springer Heidelberg Dordrecht London New York Library of Congress Control Number: 2011934753 # SSIEM and Springer-Verlag Berlin Heidelberg 2011 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
Psychosocial Aspects of Predictive Genetic Testing for Acute Intermittent Porphyria in Norwegian Minors . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 Janice Andersen, Sverre Sandberg, Maalfrid Raaheim, and Eva Gjengedal Enzyme Replacement Therapy and Extended Newborn Screening for Mucopolysaccharidoses: Opinions of Treating Physicians . . . . . . . . . . . . . . . . . . . 9 David J. Coman, Ian M. Hayes, Veronica Collins, Margaret Sahhar J. Ed Wraith, and Martin B. Delatycki Mutation Spectrum of Fumarylacetoacetase Gene and Clinical Aspects of Tyrosinemia Type I Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 17 ¨ zgu¨l, S. Sivri, A. Tokatlı, A. Gu¨zel, L. Mesci, M. Kılıc¸, A. Dursun, R.K. O ¨ zc¸ay, M. Gu¨ndu¨z, and T. Cos¸kun D. Aliefendioglu, F. O Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1 . . . . . . . . . . . . . . . . . . . . . . . . . 23 Silvia Galletti, Yvonne Nitschke, Anna M. Malavolti, Giulia Aquilano Giacomo Faldella, Luigi Corvaglia, and Frank Rutsch Lymphoblastoid Cell Lines for Diagnosis of Peroxisome Biogenesis Disorders . . . . . 29 Sabine Grønborg, Ralph Kra¨tzner, Hendrik Rosewich, and Jutta Ga¨rtner First Report of a Molecular Prenatal Diagnosis in a Tunisian Family with Lysinuric Protein Intolerance . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 37 Nadia Esseghir, Chiraz Souissi Bouchlaka, Sondess Hadj Fredj, Amel Ben Chehida, Hatem Azzouz, Monique Fontaine, Neji Tebib, Marie Franc¸oise Ben Dridi, Gilbert Briand, Taieb Messaoud, Amel Ben Ammar Elgaaied, and Naziha
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