JIMD Reports, Volume 26

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

Part of the JIMD Reports book series (JIMD, volume 26)

Table of contents

  1. Front Matter
    Pages i-vi
  2. Siobhán Neville, Siobhan O’Sullivan, Bronagh Sweeney, Bryan Lynch, Donncha Hanrahan, Ina Knerr et al.
    Pages 1-5
  3. Beyhan Tuysuz, Davut Pehlivan, Ahmet Özkök, Shalini Jhangiani, Cengiz Yalcinkaya, Çiğdem Aktuğlu Zeybek et al.
    Pages 7-12
  4. Jillian P. Casey, Ellen Crushell, Kyle Thompson, Eilish Twomey, Langping He, Sean Ennis et al.
    Pages 13-19
  5. S. Schulte Althoff, M. Grüneberg, J. Reunert, J. H. Park, S. Rust, C. Mühlhausen et al.
    Pages 21-29
  6. Ehud Banne, Vardiella Meiner, Avraham Shaag, Rachel Katz-Brull, Ayelet Gamliel, Stanley Korman et al.
    Pages 31-36
  7. Piero Farruggia, Andrea Di Cataldo, Rita M. Pinto, Elena Palmisani, Alessandra Macaluso, Laura Lo Valvo et al.
    Pages 37-43
  8. Agnieszka Różdżyńska-Świątkowska, Elżbieta Jurkiewicz, Anna Tylki-Szymańska
    Pages 45-51
  9. Maria João Nabais Sá, Júlio C. Rocha, Manuela F. Almeida, Carla Carmona, Esmeralda Martins, Vasco Miranda et al.
    Pages 53-60
  10. A. Ahmed, K. Rudser, A. Kunin-Batson, K. Delaney, C. Whitley, E. Shapiro
    Pages 61-68
  11. Karen Campo, Gabriela Castro, Valerie Hamilton, Juan Francisco Cabello, Erna Raimann, Carolina Arias et al.
    Pages 69-76
  12. Esther Schrapers, Laura C. Tegtmeyer, Gunter Simic-Schleicher, Volker Debus, Janine Reunert, Sebastian Balbach et al.
    Pages 77-84
  13. Katalin M. Ross, Laurie M. Brown, Michelle M. Corrado, Tayoot Chengsupanimit, Latravia M. Curry, Iris A. Ferrecchia et al.
    Pages 85-90
  14. J. Hatch, D. Coman, P. Clayton, P. Mills, S. Calvert, R. I. Webster et al.
    Pages 91-97
  15. Thabata Caroline da Rocha Siqueira, Carolina Fischinger Moura de Souza, Paulo Lompa, Mercedes Picarelli, Ilóite Scheibel, Fernanda Bender et al.
    Pages 99-102
  16. Marlieke Barends, Lotte Verschuren, Eva Morava, Victoria Nesbitt, Doug Turnbull, Robert McFarland
    Pages 103-113

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 School New 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

  • DOI https://doi.org/10.1007/978-3-662-49833-0
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2016
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Biomedical and Life Sciences
  • Print ISBN 978-3-662-49832-3
  • Online ISBN 978-3-662-49833-0
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • About this book