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JIMD Reports, Volume 29

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

Part of the JIMD Reports book series (JIMD, volume 29)

Table of contents

  1. Front Matter
    Pages i-vi
  2. C. Nicolas, N. Bednarek, V. Vuiblet, O. Boyer, A. Brassier, P. De Lonlay et al.
    Pages 11-17
  3. Jenny Bellerose, Mathilde Neugnot-Cerioli, Karine Bédard, Catherine Brunel-Guitton, Grant A. Mitchell, Luis H. Ospina et al.
    Pages 19-32
  4. Shanti Balasubramaniam, Barry Lewis, Lawrence Greed, David Meili, Annegret Flier, Raina Yamamoto et al.
    Pages 33-38
  5. Faiqa Imtiaz, Bashayer M. Al-Mubarak, Abeer Al-Mostafa, Mohamed Al-Hamed, Rabab Allam, Zuhair Al-Hassnan et al.
    Pages 39-46
  6. Emanuele Barca, Maoxue Tang, Giulio Kleiner, Kristin Engelstad, Salvatore DiMauro, Catarina M. Quinzii et al.
    Pages 47-52
  7. Denise Rotta Ruttkay Pereira, Claudia Schweiger, Carolina F. de Souza, Simone Fagondes, Denise Manica, Roberto Giugliani et al.
    Pages 53-58
  8. Helen Beard, Sofia Hassiotis, Amanda J. Luck, Tina Rozaklis, John J. Hopwood, Kim M. Hemsley
    Pages 59-68
  9. Ulrike Schueler, Christine Kaneski, Alan Remaley, Stephen Demosky, Nancy Dwyer, Joan Blanchette-Mackie et al.
    Pages 69-75
  10. P. Burgard, E. Mönch, J. Zschocke, U. Wendel, U. Langenbeck, On behalf of the German Collaborative Study of Phenylketonuria (PKU)/Hyperphenylalaninaemia (HPA)
    Pages 77-84
  11. Charlotte Thiels, Martin Fleger, Martina Huemer, Richard J. Rodenburg, Frederic M. Vaz, Riekelt H. Houtkooper et al.
    Pages 89-93
  12. A. S. Kunin-Batson, E. G. Shapiro, K. D. Rudser, C. A. Lavery, K. J. Bjoraker, S. A. Jones et al.
    Pages 95-102
  13. Juliette Bouchereau, Sandrine Vuillaumier Barrot, Thierry Dupré, Stuart E. H. Moore, Ruxandra Cardas, Yline Capri et al.
    Pages 109-113

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 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 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/10.1007/978-3-662-53278-2
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2016
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Biomedical and Life Sciences
  • Print ISBN 978-3-662-53277-5
  • Online ISBN 978-3-662-53278-2
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • Buy this book on publisher's site
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