JIMD Reports, Volume 24

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

Part of the JIMD Reports book series (JIMD, volume 24)

Table of contents

  1. Front Matter
    Pages i-vi
  2. Jeannette L. Usher, David B. Ascher, Douglas E. V. Pires, Anna M. Milan, Tom L. Blundell, Lakshminarayan R. Ranganath
    Pages 3-11
  3. Ilya Gertsman, Bruce A. Barshop, Jan Panyard-Davis, Jon A. Gangoiti, William L. Nyhan
    Pages 13-20
  4. Birgitta Olsson, Trevor F Cox, Eftychia E Psarelli, Johan Szamosi, Andrew T Hughes, Anna M Milan et al.
    Pages 21-27
  5. F. Genovese, A. S. Siebuhr, K. Musa, J. A. Gallagher, A. M. Milan, M. A. Karsdal et al.
    Pages 29-37
  6. Gabor J. Barton, Stephanie L. King, Mark A. Robinson, Malcolm B. Hawken, Lakshminarayan R. Ranganath
    Pages 39-44
  7. Craig M Keenan, Andrew J Preston, Hazel Sutherland, Peter J Wilson, Eftychia E Psarelli, Trevor F Cox et al.
    Pages 45-50
  8. Saskia Koene, Paul de Laat, Doorlène H. van Tienoven, Gert Weijers, Dennis Vriens, Fred C. G. J. Sweep et al.
    Pages 69-81
  9. Nicholas Brodszki, Maria Svensson, André B. P. van Kuilenburg, Judith Meijer, Lida Zoetekouw, Lennart Truedsson et al.
    Pages 83-89
  10. M. M. Vawter-Lee, B. E. Hallinan, T. A. Burrow, C. G. Spaeth, T. M. Arthur
    Pages 97-102
  11. Marilis T. Lara, Juliana Gurgel-Giannetti, Marcos J. B. Aguiar, Roberto V. P. Ladeira, Nara O. Carvalho, Dora M. del Castillo et al.
    Pages 103-107
  12. Matthias Zielonka, Nawal Makhseed, Nenad Blau, Markus Bettendorf, Georg Friedrich Hoffmann, Thomas Opladen
    Pages 109-113
  13. João Stein Kannebley, Laura Silveira-Moriyama, Laís Orrico Donnabella Bastos, Carlos Eduardo Steiner
    Pages 115-122
  14. Nicole T. Lawrence, Tayoot Chengsupanimit, Laurie M. Brown, David A. Weinstein
    Pages 123-128

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

Mendelian disorder endocrinology inherited metabolic diseases medical genetics pediatrics

Editors and affiliations

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

Bibliographic information

  • DOI https://doi.org/10.1007/978-3-662-48227-8
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2015
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Biomedical and Life Sciences
  • Print ISBN 978-3-662-48226-1
  • Online ISBN 978-3-662-48227-8
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • About this book