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JIMD Reports, Volume 25

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

Part of the JIMD Reports book series (JIMD, volume 25)

Table of contents

  1. Front Matter
    Pages i-vi
  2. Dèlia Yubero, Raquel Montero, Mar O’Callaghan, Mercè Pineda, Silvia Meavilla, Veronica Delgadillo et al.
    Pages 1-7
  3. Imre F. Schene, Viera Kalinina Ayuso, Monique de Sain-van der Velden, Koen L. I. van Gassen, Inge Cuppen, Peter M. van Hasselt et al.
    Pages 9-13
  4. Ashlee R. Stiles, Leah Venturoni, Grace Mucci, Naser Elbalalesy, Michael Woontner, Stephen Goodman et al.
    Pages 15-19
  5. Ertugrul Kiykim, Kenan Barut, Mehmet Serif Cansever, Cigdem Aktuglu Zeybek, Tanyel Zubarioglu, Ahmet Aydin et al.
    Pages 21-24
  6. Mahdi Amiri, Eva-Maria Kuech, Hadeel Shammas, Gabi Wetzel, Hassan Y. Naim
    Pages 25-29
  7. A. Lawrence, J. Saini, S. Sinha, S. Rao, M. Naggappa, P. S. Bindu et al.
    Pages 31-37
  8. Daniela Melis, Giorgia Minopoli, Francesca Balivo, Paola Marcolongo, Rossella Parini, Sabrina Paci et al.
    Pages 39-45
  9. Mari Kärki, Kirsti Näntö-Salonen, Harri Niinikoski, Laura M. Tanner
    Pages 47-55
  10. Evangelia Dimitriou, Monica Cozar, Irene Mavridou, Daniel Grinberg, Lluïsa Vilageliu, Helen Michelakakis
    Pages 57-64
  11. Jabin Rafiq, Morten Duno, Elsebet Østergaard, Kirstine Ravn, Christoffer R. Vissing, Flemming Wibrand et al.
    Pages 65-70
  12. D. Coman, P. Lewindon, P. Clayton, K. Riney
    Pages 71-75
  13. Barbara Willandt, Janneke G. Langendonk, Katharina Biermann, Wouter Meersseman, François D’Heygere, Christophe George et al.
    Pages 77-81
  14. A. Khanna, R. Gish, S. C. Winter, W. L. Nyhan, B. A. Barshop
    Pages 87-94
  15. Ozlem Goker-Alpan, Michael J. Gambello, Gustavo H. B. Maegawa, Khan J. Nedd, Daniel J. Gruskin, Larry Blankstein et al.
    Pages 95-106

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

  • DOI https://doi.org/10.1007/978-3-662-49668-8
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2016
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Biomedical and Life Sciences
  • Print ISBN 978-3-662-49667-1
  • Online ISBN 978-3-662-49668-8
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • Buy this book on publisher's site
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