© 2015

JIMD Reports, Volume 20

  • Johannes Zschocke
  • Matthias Baumgartner
  • Eva Morava
  • Marc Patterson
  • Shamima Rahman
  • Verena Peters
  • Unique collection of case and research reports on rare metabolic disorders

  • Contains unusual or previously unrecorded features relevant to metabolic disorders

  • All contributions rigorously peer-reviewed


Part of the JIMD Reports book series (JIMD, volume 20)

Table of contents

  1. Front Matter
    Pages i-vi
  2. Mauricio De Castro, Dina J. Zand, Uta Lichter-Konecki, Brian Kirmse
    Pages 1-4
  3. Erin R. McNamara, Stephanie Austin, Laura Case, John S. Wiener, Andrew C. Peterson, Priya S. Kishnani
    Pages 5-10
  4. Isidro Vitoria, Elena Martín-Hernández, Luis Peña-Quintana, María Bueno, Pilar Quijada-Fraile, Jaime Dalmau et al.
    Pages 11-20
  5. Josep Oriola, Francisca Moreno, Angel Gutiérrez-Nogués, Sara León, Carmen-María García-Herrero, Olivier Vincent et al.
    Pages 21-26
  6. Ole Hensel, F. Hanisch, K. Stock, D. Stoevesandt, M. Deschauer, T. Müller
    Pages 27-33
  7. Marieke Velema, Erik Boot, Marc Engelen, Carla Hollak
    Pages 35-38
  8. Barbara Xoana Granata, Marco Baralle, Laura De Conti, Victoria Parera, Maria Victoria Rossetti
    Pages 39-44
  9. Eun-Young Choi, Keyur Patel, Marie Reine Haddad, Ling Yi, Courtney Holmes, David S. Goldstein et al.
    Pages 57-63
  10. Andreas Hahn, Susanne Praetorius, Nesrin Karabul, Johanna Dießel, Dorle Schmidt, Reinald Motz et al.
    Pages 65-75
  11. Hannah Y. Coletti, Mieke Aldenhoven, Karina Yelin, Michele D. Poe, Joanne Kurtzberg, Maria L. Escolar
    Pages 77-86
  12. Anna Ardissone, Eleonora Lamantea, Jade Quartararo, Cristina Dallabona, Franco Carrara, Isabella Moroni et al.
    Pages 95-101
  13. J. Rasmussen, J. A. Thomsen, J. H. Olesen, T. M. Lund, M. Mohr, J. Clementsen et al.
    Pages 103-111
  14. Ana Marcão, María L. Couce, Célia Nogueira, Helena Fonseca, Filipa Ferreira, José M. Fraga et al.
    Pages 113-120

About this book


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.


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 for Metabolic DiseasesUniversity Children´s HospitalZürichSwitzerland
  3. 3.Tulane University Medical SchoolNew OrleansUSA
  4. 4.Division of Child and Adolescent NeuroloMayo 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

  • Book Title JIMD Reports, Volume 20
  • Editors Johannes Zschocke
    Matthias Baumgartner
    Eva Morava
    Marc Patterson
    Shamima Rahman
    Verena Peters
  • Series Title JIMD Reports
  • Series Abbreviated Title JIMD Reports
  • DOI
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2015
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine Medicine (R0)
  • Softcover ISBN 978-3-662-46699-5
  • eBook ISBN 978-3-662-46700-8
  • Series ISSN 2192-8304
  • Series E-ISSN 2192-8312
  • Edition Number 1
  • Number of Pages VI, 120
  • Number of Illustrations 18 b/w illustrations, 10 illustrations in colour
  • Topics Human Genetics
    Metabolic Diseases
    Human Physiology
  • Buy this book on publisher's site
Industry Sectors
Health & Hospitals