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JIMD Reports, Volume 33

  • Eva Morava (Editor-in-Chief)
  • Matthias Baumgartner
  • Marc Patterson
  • Shamima Rahman
  • Johannes Zschocke
  • Verena Peters

Part of the JIMD Reports book series (JIMD, volume 33)

Table of contents

  1. Front Matter
    Pages i-vi
  2. Gyani Swift, Maureen Cleary, Stephanie Grunewald, Sonia Lozano, Martina Ryan, James Davison
    Pages 11-17
  3. Camelia Alkhzouz, Cecilia Lazea, Simona Bucerzan, Ioana Nascu, Eva Kiss, Carmencita Lucia Denes et al.
    Pages 19-25
  4. Kelly A. Shaw, Jennifer G. Mulle, Michael P. Epstein, Judith L. Fridovich-Keil
    Pages 27-32
  5. Christoph Kampmann, Christiane M. Wiethoff, Ralf G. Huth, Gundula Staatz, Eugen Mengel, Michael Beck et al.
    Pages 33-39
  6. Anna Hood, Jerrel Rutlin, Joshua S. Shimony, Dorothy K. Grange, Desiree A. White
    Pages 41-47
  7. Karolina M. Stepien, Anthony S. Wierzbicki, Bwee T. Poll-The, Hans R. Waterham, Christian J. Hendriksz
    Pages 49-53
  8. Ronen Spiegel, Devorah Soiferman, Avraham Shaag, Stavit Shalev, Orly Elpeleg, Ann Saada
    Pages 55-60
  9. Renata Oliveira, Ewen W. Sommerville, Kyle Thompson, Joana Nunes, Angela Pyle, Manuela Grazina et al.
    Pages 61-68
  10. Sabine Grønborg, Niklas Darin, Maria J. Miranda, Bodil Damgaard, Jorge Asin Cayuela, Anders Oldfors et al.
    Pages 69-77
  11. Christopher Newell, Barbara Ramage, Alberto Nettel-Aguirre, Ion Robu, Aneal Khan
    Pages 79-86
  12. Tessa van Dijk, Fred van Ruissen, Bregje Jaeger, Richard J. Rodenburg, Saskia Tamminga, Merel van Maarle et al.
    Pages 87-92
  13. Andrew C. Edmondson, Jennifer Salant, Lynne A. Ierardi-Curto, Can Ficicioglu
    Pages 93-97
  14. Shanti Balasubramaniam, B. Lewis, D. M. Mock, H. M. Said, M. Tarailo-Graovac, A. Mattman et al.
    Pages 99-107
  15. Andrew C. Edmondson, Jennifer Salant, Lynne A. Ierardi-Curto, Can Ficicioglu
    Pages 109-110

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 (Editor-in-Chief)
    • 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 and Children’s Research CentreUniversity Children’s Hospital ZurichZurichSwitzerland
  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/10.1007/978-3-662-55012-0
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2017
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Biomedical and Life Sciences
  • Print ISBN 978-3-662-55011-3
  • Online ISBN 978-3-662-55012-0
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • Buy this book on publisher's site
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