© 2018

JIMD Reports, Volume 42

  • 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 42)

Table of contents

  1. Front Matter
    Pages i-vi
  2. Raajiv Prasad, Jane Estrella, John Christodoulou, Geoffrey McKellar, Michel C. Tchan
    Pages 5-8
  3. Kenneth I. Berger, Barbara K. Burton, Gregory D. Lewis, Mark Tarnopolsky, Paul R. Harmatz, John J. Mitchell et al.
    Pages 9-17
  4. Shanti Balasubramaniam, Lisa G. Riley, Anand Vasudevan, Mark J. Cowley, Velimir Gayevskiy, Carolyn M. Sue et al.
    Pages 19-29
  5. Jessie C. Jacobsen, Whitney Whitford, Brendan Swan, Juliet Taylor, Donald R. Love, Rosamund Hill et al.
    Pages 31-36
  6. Maureen Evans, Kay Nguo, Avihu Boneh, Helen Truby
    Pages 37-45
  7. Ahmed Reda, Ann Van Schepdael, Erwin Adams, Prasanta Paul, David Devolder, Mohamed A. Elmonem et al.
    Pages 47-51
  8. C. Bursle, K. Riney, J. Stringer, D. Moore, G. Gole, L. S. Kearns et al.
    Pages 53-60
  9. Paula Pérez-Albert, Carmen de Lucas Collantes, Miguel Ángel Fernández-García, Teresa de Rojas, Cristina Aparicio López, Luis Gutiérrez-Solana
    Pages 61-70
  10. V. Hamilton, L. Santa María, K. Fuenzalida, P. Morales, L. R. Desviat, M. Ugarte et al.
    Pages 71-77
  11. Patryk Lipiński, Joanna Pawłowska, Teresa Stradomska, Elżbieta Ciara, Irena Jankowska, Piotr Socha et al.
    Pages 79-87
  12. Monique G. M. de Sain-van der Velden, Willemijn F. E. Kuper, Marie-Anne Kuijper, Lenneke A. T. van Kats, Hubertus C. M. T. Prinsen, Astrid C. J. Balemans et al.
    Pages 99-103
  13. Nouf Althonaian, Abdulrahman Alsultan, Eva Morava, Majid Alfadhel
    Pages 105-111
  14. Sandra Pereira, Mariana Adrião, Mafalda Sampaio, Margarida Ayres Basto, Esmeralda Rodrigues, Laura Vilarinho et al.
    Pages 113-119

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 & 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

  • Book Title JIMD Reports, Volume 42
  • 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) 2018
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Biomedical and Life Sciences Biomedical and Life Sciences (R0)
  • Softcover ISBN 978-3-662-58364-7
  • eBook ISBN 978-3-662-58365-4
  • Series ISSN 2192-8304
  • Series E-ISSN 2192-8312
  • Edition Number 1
  • Number of Pages VI, 119
  • Number of Illustrations 6 b/w illustrations, 12 illustrations in colour
  • Topics Human Genetics
    Metabolic Diseases
    Molecular Medicine
  • Buy this book on publisher's site
Industry Sectors
Health & Hospitals