© 2017

JIMD Reports, Volume 34

  • Eva Morava
  • Matthias Baumgartner
  • Marc Patterson
  • Shamima Rahman
  • Johannes Zschocke
  • 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 34)

Table of contents

  1. Front Matter
    Pages i-vi
  2. Jun Sun, Angela J McGillivray, Jason Pinner, Zhihui Yan, Fengxia Liu, Drago Bratkovic et al.
    Pages 1-9
  3. Annika Ohlsson, Helene Bruhn, Anna Nordenström, Rolf H. Zetterström, Anna Wedell, Ulrika von Döbeln
    Pages 19-26
  4. C. Bursle, D. Brown, J. Cardinal, F. Connor, S. Calvert, D. Coman
    Pages 27-32
  5. Ashwini Maratha, Hugh-Owen Colhoun, Ina Knerr, Karen P. Coss, Peter Doran, Eileen P. Treacy
    Pages 33-42
  6. Rebecca D. Ganetzky, Emma Bedoukian, Matthew A. Deardorff, Can Ficicioglu
    Pages 43-47
  7. M. M. Welsink-Karssies, J. A. W. Polderman, E. J. Nieveen van Dijkum, B. Preckel, W. S. Schlack, G. Visser et al.
    Pages 49-54
  8. Shane C. Quinonez, Andrea H. Seeley, Cindy Lam, Thomas W. Glover, Bruce A. Barshop, Catherine E. Keegan
    Pages 55-61
  9. Zahra Karimian, Chester B. Whitley, Kyle D. Rudser, Jeanine R. Jarnes Utz
    Pages 63-70
  10. C. Maxit, I. Denzler, D. Marchione, G. Agosta, J. Koster, R. J. A. Wanders et al.
    Pages 71-75
  11. Susan E. Waisbren, Sanjay P. Prabhu, Patricia Greenstein, Carter Petty, Donald Schomer, Vera Anastasoaie et al.
    Pages 77-86
  12. Ana Claudia Marquim F. Araújo, Wilma M. C. Araújo, Ursula M. Lanfer Marquez, Rita Akutsu, Eduardo Y. Nakano
    Pages 87-96
  13. Laura M. Tanner, Johanna Kurko, Maaria Tringham, Heikki Aho, Juha Mykkänen, Kirsti Näntö-Salonen et al.
    Pages 97-104
  14. Savita Verma Attri, Pratibha Singhi, Natrujee Wiwattanadittakul, Jyotindra N. Goswami, Naveen Sankhyan, Gajja S. Salomons et al.
    Pages 111-115

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.


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 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

  • Book Title JIMD Reports, Volume 34
  • Editors Eva Morava
    Matthias Baumgartner
    Marc Patterson
    Shamima Rahman
    Johannes Zschocke
    Verena Peters
  • Series Title JIMD Reports
  • Series Abbreviated Title JIMD Reports
  • DOI
  • Copyright Information Society for the Study of Inborn Errors of Metabolism (SSIEM) 2017
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Biomedical and Life Sciences Biomedical and Life Sciences (R0)
  • Softcover ISBN 978-3-662-55585-9
  • eBook ISBN 978-3-662-55586-6
  • Series ISSN 2192-8304
  • Series E-ISSN 2192-8312
  • Edition Number 1
  • Number of Pages VI, 115
  • Number of Illustrations 0 b/w illustrations, 0 illustrations in colour
  • Topics Human Genetics
    Metabolic Diseases
    Molecular Medicine
  • Buy this book on publisher's site