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JIMD Reports, Volume 37

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

Part of the JIMD Reports book series (JIMD, volume 37)

Table of contents

  1. Front Matter
    Pages i-vi
  2. David Santosa, Markus G. Donner, Stephan vom Dahl, Markus Fleisch, Thomas Hoehn, Ertan Mayatepek et al.
    Pages 1-5
  3. Carla Ruiz-Andrés, Elena Sellés, Angela Arias, Laura Gort, The Spanish LAL Deficiency Working Group
    Pages 7-12
  4. Lisette M. Berends, Eduard A. Struys, Birthe Roos, Ulbe Holwerda, Erwin E. W. Jansen, Gajja S. Salomons et al.
    Pages 13-17
  5. Filipa Dias Costa, Sacha Ferdinandusse, Carla Pinto, Andrea Dias, Liesbeth Keldermans, Dulce Quelhas et al.
    Pages 19-25
  6. Nina A. Zeltner, Matthias R. Baumgartner, Aljona Bondarenko, Regina Ensenauer, Daniela Karall, Stefan Kölker et al.
    Pages 27-35
  7. Francesca Minoia, Marta Bertamino, Paolo Picco, Mariasavina Severino, Andrea Rossi, Chiara Fiorillo et al.
    Pages 37-43
  8. M. Fleger, J. Willomitzer, R. Meinsma, M. Alders, J. Meijer, R. C. M. Hennekam et al.
    Pages 49-54
  9. Sally P. Stabler, Cynthia Freehauf, Robert H. Allen, Janet Thomas, Renata Gallagher
    Pages 55-61
  10. Deeksha S. Bali, Jennifer L. Goldstein, Keri Fredrickson, Stephanie Austin, Surekha Pendyal, Catherine Rehder et al.
    Pages 63-72
  11. Charlotte Veyrat-Durebex, Christelle Debeissat, Hélène Blasco, Franck Patin, Hélène Henique, Patrick Emond et al.
    Pages 73-83
  12. Dawn A. Laney, Virginia Clarke, Allison Foley, Eric W. Hall, Scott E. Gillespie, Myrl Holida et al.
    Pages 85-97
  13. Kosei Hasegawa, Hiroyuki Tanaka, Miho Yamashita, Yousuke Higuchi, Takayuki Miyai, Junko Yoshimoto et al.
    Pages 99-106
  14. Emma Medford, Dougal Julian Hare, Katie Carpenter, Stewart Rust, Simon Jones, Anja Wittkowski
    Pages 107-114
  15. Lindsey Welling, Susan E. Waisbren, Kevin M. Antshel, Hugh-Owen Colhoun, Matthias Gautschi, Stephanie Grünewald et al.
    Pages 115-123

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 School New 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 HealthLondonUnited Kingdom
  5. 5.Division of Human GeneticsMedical University InnsbruckInnsbruckAustria
  6. 6.Center for Child and Adolescent MedicineHeidelberg University HospitalHeidelbergGermany

Bibliographic information

  • DOI https://doi.org/10.1007/978-3-662-56359-5
  • Copyright Information Society for the Study of Inborn Errors of Metabolism (SSIEM) 2017
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Biomedical and Life Sciences
  • Print ISBN 978-3-662-56358-8
  • Online ISBN 978-3-662-56359-5
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • Buy this book on publisher's site