Advertisement

JIMD Reports, Volume 27

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

Part of the JIMD Reports book series (JIMD, volume 27)

Table of contents

  1. Front Matter
    Pages i-vi
  2. Ghadi Antoun, Skye McBride, Jason R. Vanstone, Turaya Naas, Jean Michaud, Stephanie Redpath et al.
    Pages 1-9
  3. P. Bala, S. Ferdinandusse, S. E. Olpin, P. Chetcuti, A. A. M. Morris
    Pages 11-15
  4. Paula Fernandez-Guerra, M. Lund, T. J. Corydon, N. Cornelius, N. Gregersen, J. Palmfeldt et al.
    Pages 17-26
  5. Roeltje R. Maas, Adela Della Marina, Arjan P. M. de Brouwer, Ron A. Wevers, Richard J Rodenburg, Saskia B. Wortmann
    Pages 27-32
  6. Jerold Jeyaratnam, Nienke M. ter Haar, Monique G. M. de Sain-van der Velden, Hans R. Waterham, Mariëlle E. van Gijn, Joost Frenkel
    Pages 33-38
  7. Clément Pontoizeau, Florence Habarou, Anaïs Brassier, Alice Veauville-Merllié, Coraline Grisel, Jean-Baptiste Arnoux et al.
    Pages 39-45
  8. Henning Stockmann, Karen P. Coss, M. Estela Rubio-Gozalbo, Ina Knerr, Maria Fitzgibbon, Ashwini Maratha et al.
    Pages 47-53
  9. Julie Chantreuil, Géraldine Favrais, Nadine Fakhri, Marine Tardieu, Nicolas Roullet-Renoleau, Thierry Perez et al.
    Pages 55-62
  10. Dorota Piekutowska-Abramczuk, Beata Kocyła-Karczmarewicz, Maja Małkowska, Sylwia Łuczak, Katarzyna Iwanicka-Pronicka, Stephanie Siegmund et al.
    Pages 63-68
  11. Priscila Nicolao Mazzola, Vibeke Bruinenberg, Karen Anjema, Danique van Vliet, Carlos Severo Dutra-Filho, Francjan J. van Spronsen et al.
    Pages 69-77
  12. Emma S. Reid, Hywel Williams, Polona Le Quesne Stabej, Chela James, Louise Ocaka, Chiara Bacchelli et al.
    Pages 79-84
  13. Agata Fiumara, Rita Barone, Giuliana Del Campo, Pasquale Striano, Jaak Jaeken
    Pages 93-99
  14. Eugene Diekman, Monique de Sain-van der Velden, Hans Waterham, Leo Kluijtmans, Peter Schielen, Evert Ben van Veen et al.
    Pages 101-106
  15. Sarah AlSubhi, Amal AlHashem, Anas AlAzami, Kalthoum Tlili, Saad AlShahwan, Dirk Lefeber et al.
    Pages 107-112

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

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 ReUniversity Children's Hospital ZurichZurichSwitzerland
  3. 3.Division of Child and Adolescent NeuroloMayo 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

  • DOI https://doi.org/10.1007/978-3-662-50409-3
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2016
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Biomedical and Life Sciences
  • Print ISBN 978-3-662-50408-6
  • Online ISBN 978-3-662-50409-3
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • Buy this book on publisher's site
Industry Sectors
Pharma
Biotechnology
Consumer Packaged Goods