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JIMD Reports, Volume 45

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

Part of the JIMD Reports book series (JIMD, volume 45)

Table of contents

  1. Front Matter
    Pages i-vi
  2. Rachel Edmiston, Stuart Wilkinson, Simon Jones, Karen Tylee, Alexander Broomfield, Iain A. Bruce
    Pages 1-8
  3. Heng Wang, Valerie Sency, Paul McJarrow, Alicia Bright, Qianyang Huang, Karen Cechner et al.
    Pages 9-20
  4. Chenia Caldeira Martinez, Tássia Tonon, Tatiéle Nalin, Lilia Farret Refosco, Carolina Fischinger Moura de Souza, Ida Vanessa Doederlein Schwartz
    Pages 21-27
  5. Naresh P. Shanmugam, Joseph J. Valamparampil, Mettu Srinivas Reddy, Khoula Julenda Al Said, Khalid Al-Thihli, Nadia Al-Hashmi et al.
    Pages 29-36
  6. B. Ryder, M. Tolomeo, Z. Nochi, M. Colella, M. Barile, R. K. Olsen et al.
    Pages 37-44
  7. Colin P. Hawkes, Juan J. Lado, Stephanie Givler, Diva D. De Leon
    Pages 45-50
  8. Tavleen Sandhu, Michelle Polan, Zhongxin Yu, Rufei Lu, Abhishek Makkar
    Pages 51-55
  9. Thomas M. Kitzler, Indra R. Gupta, Bradley Osterman, Chantal Poulin, Yannis Trakadis, Paula J. Waters et al.
    Pages 57-63
  10. André B. P. van Kuilenburg, Judith Meijer, Rutger Meinsma, Belén Pérez-Dueñas, Marielle Alders, Zahurul A. Bhuiyan et al.
    Pages 65-69
  11. Christina Peroutka, Jacqueline Salas, Jacquelyn Britton, Juliet Bishop, Lisa Kratz, Maureen M. Gilmore et al.
    Pages 71-76
  12. Pehuén Fernández, Shunko Oscar Fernández, Jacqueline Griselda Mariela Gonzalez, Tabaré Fernández, Cinthia Claudia Fernández, Segundo Pastor Fernández
    Pages 77-81
  13. G. V. Baydakova, T. A. Ivanova, S. V. Mikhaylova, D. Kh. Saydaeva, L. L. Dzhudinova, A. I. Akhlakova et al.
    Pages 89-93
  14. Imre F. Schene, Christoph G. Korenke, Hidde H. Huidekoper, Ludo van der Pol, Dennis Dooijes, Johannes M. P. J. Breur et al.
    Pages 99-104
  15. Andrea Medrano Behlmann, Namita A. Goyal, Xiaoyu Yang, Ping H. Chen, Arunkanth Ankala
    Pages 105-110

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
    • 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/10.1007/978-3-662-58647-1
  • 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 978-3-662-58646-4
  • Online ISBN 978-3-662-58647-1
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • Buy this book on publisher's site
Industry Sectors
Pharma
Biotechnology