© 2018

JIMD Reports, Volume 38

  • 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 38)

Table of contents

  1. Front Matter
    Pages i-vi
  2. Koenraad R. Veys, Kathleen W. D’Hauwers, Angelique J. C. M. van Dongen, Mirian C. Janssen, Martine T. P. Besouw, Ellen Goossens et al.
    Pages 1-6
  3. Gül Demet Kaya Ozcora, Songul Gokay, Mehmet Canpolat, Fatih Kardaş, Mustafa Kendirci, Sefer Kumandaş
    Pages 7-12
  4. Nadia Ali, Scott Gillespie, Dawn Laney
    Pages 13-21
  5. Chiara Panicucci, Chiara Fiorillo, Francesca Moro, Guja Astrea, Giacomo Brisca, Federica Trucco et al.
    Pages 23-31
  6. Corrado Angelini, Daniela Tavian, Sara Missaglia
    Pages 33-40
  7. Raashda Ainuddin Sulaiman, Maha Al-Nemer, Rubina Khan, Munirah Almasned, Bedour S. Handoum, Zuhair N. Al-Hassnan
    Pages 41-44
  8. William R. Wilcox, Ulla Feldt-Rasmussen, Ana Maria Martins, Alberto Ortiz, Roberta M. Lemay, Ana Jovanovic et al.
    Pages 45-51
  9. F. Habarou, N. Bahi-Buisson, E. Lebigot, C. Pontoizeau, M. T. Abi-Warde, A. Brassier et al.
    Pages 53-59
  10. Patricia L. Hall, Regina Laine, John J. Alexander, Arunkanth Ankala, Lisa A. Teot, Hart G. W. Lidov et al.
    Pages 61-65
  11. Masashi Morita, Ayako Honda, Akira Kobayashi, Yuichi Watanabe, Shiro Watanabe, Kosuke Kawaguchi et al.
    Pages 67-74
  12. Pier Luigi Calvo, Marco Spada, Ivana Rabbone, Michele Pinon, Francesco Porta, Fabio Cisarò et al.
    Pages 97-100
  13. Peter van Vliet, Annelies E. Berden, Mojca K. M. van Schie, Jaap A. Bakker, Christian Heringhaus, Irenaeus F. M. de Coo et al.
    Pages 101-105

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.

The chapter 'Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1 (HT-1)' is open access under a CC BY 4.0 license via


inherited metabolic diseases pediatrics medical genetics Mendelian disorder endocrinology metabolic disease

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 HealthLondonUnited Kingdom
  5. 5.Division of Human GeneticsMedical University InnsbruckInnsbruckAustria
  6. 6.Center for Child and Adolescent MedicineHeidelberg University HospitalHeidelbergGermany

About the editors


Bibliographic information

  • Book Title JIMD Reports, Volume 38
  • 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 978-3-662-56609-1
  • eBook ISBN 978-3-662-56610-7
  • Series ISSN 2192-8304
  • Series E-ISSN 2192-8312
  • Edition Number 1
  • Number of Pages VI, 105
  • Number of Illustrations 13 b/w illustrations, 7 illustrations in colour
  • Topics Human Genetics
    Metabolic Diseases
    Molecular Medicine
  • Buy this book on publisher's site
Industry Sectors
Health & Hospitals