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JIMD Reports, Volume 23

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

Part of the JIMD Reports book series (JIMD, volume 23)

Table of contents

  1. Front Matter
    Pages i-vi
  2. Ana I. Coelho, Matilde Trabuco, Maria João Silva, Isabel Tavares de Almeida, Paula Leandro, Isabel Rivera et al.
    Pages 1-6
  3. Ozlem Goker-Alpan, Khan Nedd, Suma P. Shankar, Yeong-Hau H. Lien, Neal Weinreb, Anna Wijatyk et al.
    Pages 7-15
  4. J. Reunert, A. S. Lotz-Havla, G. Polo, F. Kannenberg, M. Fobker, M. Griese et al.
    Pages 17-26
  5. Loren D. M. Pena, Alan D. Proia, Priya S. Kishnani
    Pages 45-54
  6. Dezső David, Lígia S. Almeida, Maristella Maggi, Carlos Araújo, Stefan Imreh, Giovanna Valentini et al.
    Pages 55-65
  7. Lise Aksglaede, Mette Christensen, Jess H. Olesen, Morten Duno, Rikke K. J. Olsen, Brage S. Andresen et al.
    Pages 67-70
  8. Rebecca C. Ahrens-Nicklas, Esra Serdaroglu, Colleen Muraresku, Can Ficicioglu
    Pages 71-75
  9. Sandra D. K. Kingma, Tom Wagemans, Lodewijk IJlst, Jurgen Seppen, Marion J. J. Gijbels, Frits A. Wijburg et al.
    Pages 77-83
  10. Roberta Biancheri, Eleonora Lamantea, Mariasavina Severino, Daria Diodato, Marina Pedemonte, Denise Cassandrini et al.
    Pages 85-89
  11. Tuomas Komulainen, Milla-Riikka Hautakangas, Reetta Hinttala, Salla Pakanen, Vesa Vähäsarja, Petri Lehenkari et al.
    Pages 91-100
  12. Gwendolyn Gramer, Gisela Haege, Junmin Fang-Hoffmann, Georg F. Hoffmann, Claus R. Bartram, Katrin Hinderhofer et al.
    Pages 101-112
  13. George G. Schweitzer, Sara L. Collier, Zhouji Chen, James M. Eaton, Anne M. Connolly, Robert C. Bucelli et al.
    Pages 113-122
  14. T. D. Da Silva-José, K. J. Juárez-Rendón, J. A. Juárez-Osuna, A. Porras-Dorantes, A. Valladares-Salgado, M. Cruz et al.
    Pages 123-127

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

Mendelian disorder endocrinology inherited metabolic diseases medical genetics pediatrics

Editors and affiliations

  • Johannes Zschocke
    • 1
  • Matthias Baumgartner
    • 2
  • Eva Morava
    • 3
  • Marc Patterson
    • 4
  • Shamima Rahman
    • 5
  • Verena Peters
    • 6
  1. 1.Division of Human GeneticsMedical University InnsbruckInnsbruckAustria
  2. 2.Division of Metabolism and Children’s Research CentreUniversity Children’s Hospital ZurichZurichSwitzerland
  3. 3.Tulane University Medical SchoolNew OrleansUSA
  4. 4.Division of Child and Adolescent NeuroloMayo ClinicRochesterUSA
  5. 5.Clinical and Molecular Genetics UnitUCL Institute of Child HealthLondonUnited Kingdom
  6. 6.Center for Child and Adolescent MedicineHeidelberg University HospitalHeidelbergGermany

Bibliographic information

  • DOI https://doi.org/10.1007/978-3-662-47467-9
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2015
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine
  • Print ISBN 978-3-662-47466-2
  • Online ISBN 978-3-662-47467-9
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • Buy this book on publisher's site
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