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JIMD Reports, Volume 44

  • Eva Morava
  • Matthias Baumgartner
  • Marc Patterson
  • Shamima Rahman
  • Johannes Zschocke
  • Verena Peters
Book

Part of the JIMD Reports book series (JIMD, volume 44)

Table of contents

  1. Front Matter
    Pages i-vi
  2. Arcangela Iuso, Bader Alhaddad, Corina Weigel, Urania Kotzaeridou, Elisa Mastantuono, Thomas Schwarzmayr et al.
    Pages 1-7
  3. Jasmine Lee-Barber, Taylor E. English, Jacquelyn F. Britton, Nara Sobreira, Jason Goldstein, David Valle et al.
    Pages 9-15
  4. Noelia Nunez Martinez, Michelle Lipke, Jacqueline Robinson, Bridget Wilcken
    Pages 17-21
  5. Masashi Morita, Shun Matsumoto, Airi Sato, Kengo Inoue, Dzmitry G. Kostsin, Kozue Yamazaki et al.
    Pages 23-31
  6. Thirsa Conijn, Stephanie C. M. Nijmeijer, Hedy A. van Oers, Frits A. Wijburg, Lotte Haverman
    Pages 33-41
  7. Melis Kose, Secil Akyildiz Demir, Gulcin Akinci, Cenk Eraslan, Unsal Yilmaz, Serdar Ceylaner et al.
    Pages 43-54
  8. D. Marques-da-Silva, R. Francisco, V. dos Reis Ferreira, L. Forbat, R. Lagoa, P. A. Videira et al.
    Pages 55-64
  9. Daniel A. Jaramillo-Calle, Daniel C. Aguirre Acevedo
    Pages 65-72
  10. Aya Abu-El-Haija, Bryce A. Mendelsohn, Jacque L. Duncan, Anthony T. Moore, Orit A. Glenn, Kara Weisiger et al.
    Pages 73-77
  11. R. Anderson, S. Rust, J. Ashworth, J. Clayton-Smith, R. L. Taylor, P. T. Clayton et al.
    Pages 79-84
  12. Bobby G. Ng, Hunter R. Underhill, Lars Palm, Per Bengtson, Jean-Michel Rozet, Sylvie Gerber et al.
    Pages 85-92
  13. Christoffer V. Madsen, Erik Ilsø Christensen, Rikke Nielsen, Helle Mogensen, Åse K. Rasmussen, Ulla Feldt-Rasmussen
    Pages 93-101
  14. Katherine Taylor Wild, Rebecca D. Ganetzky, Marc Yudkoff, Lynne Ierardi-Curto
    Pages 103-107
  15. Andreas Traschütz, Michael Thomas Heneka
    Pages 109-114
  16. Naila Ismayilova, Andrew D. MacKinnon, Helen Mundy, Penny Fallon
    Pages 115-119

About this book

Introduction

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 features of a Mendelian disorder.

Keywords

inherited metabolic diseases pediatrics medical genetics Mendelian disorder endocrinology

Editors and affiliations

  • Eva Morava
    • 1
  • Matthias Baumgartner
    • 2
  • Marc Patterson
    • 3
  • Shamima Rahman
    • 4
  • Johannes Zschocke
    • 5
  • Verena Peters
    • 6
  1. 1.Tulane University Medical SchoolNew OrleansUSA
  2. 2.Division of Metabolism & Children’s Research CentreUniversity Children’s Hospital ZürichZürichSwitzerland
  3. 3.Division of Child and Adolescent NeurologyMayo ClinicRochesterUSA
  4. 4.Clinical and Molecular Genetics UnitUCL Institute of Child HealthLondonUK
  5. 5.Division of Human GeneticsMedical University InnsbruckInnsbruckAustria
  6. 6.Center for Child and Adolescent MedicineHeidelberg University HospitalHeidelbergGermany

Bibliographic information

  • DOI https://doi.org/10.1007/978-3-662-58617-4
  • Copyright Information Society for the Study of Inborn Errors of Metabolism (SSIEM) 2019
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Biomedical and Life Sciences
  • Print ISBN 978-3-662-58616-7
  • Online ISBN 978-3-662-58617-4
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • Buy this book on publisher's site
Industry Sectors
Pharma
Biotechnology