JIMD Reports - Case and Research Reports, 2012/1

  • c/o ACB

Part of the JIMD Reports book series (JIMD, volume 4)

Table of contents

  1. Front Matter
    Pages i-vii
  2. Lindsay S. Paull, Michael J. Lipinski, William G. Wilson, Shawn E. Lipinski
    Pages 1-4
  3. Elisabeth De Greef, John Christodoulou, Ian E Alexander, Albert Shun, Edward V O’Loughlin, David R Thorburn et al.
    Pages 5-11
  4. Cristina Villar, Jaume Campistol, Carmen Fons, Judith Armstrong, Anna Mas, Aida Ormazabal et al.
    Pages 13-16
  5. Valentina Paracchini, Manuela Seia, Sara Raimondi, Lucy Costantino, Patrizia Capasso, Luigi Porcaro et al.
    Pages 17-23
  6. Piotr Buda, Anna Wieteska-Klimczak, Janusz Ksiazyk, Piotr Gietka, Anna Smorczewska-Kiljan, Maciej Pronicki et al.
    Pages 25-28
  7. Laura Rodríguez-Pascau, Maria Josep Coll, Josefina Casas, Lluïsa Vilageliu, Daniel Grinberg
    Pages 29-37
  8. Tessa Wassenberg, Leo A. H. Monnens, Ben P. B. H. Geurtz, Ron A. Wevers, Marcel M. Verbeek, Michèl A. A. P. Willemsen
    Pages 39-45
  9. Ellen H. Jeninga, Monique de Vroede, Nicole Hamers, Johannes M. P. J. Breur, Nanda M. Verhoeven-Duif, Ruud Berger et al.
    Pages 47-54
  10. Andrea Zatkova, Tatiana Sedlackova, Jan Radvansky, Helena Polakova, Martina Nemethova, Robert Aquaron et al.
    Pages 55-65
  11. Karin Naess, Michela Barbaro, Helene Bruhn, Rolf Wibom, Inger Nennesmo, Ulrika von Döbeln et al.
    Pages 67-73
  12. Salvador Ibáñez Micó, Rosario Domingo Jiménez, Eduardo Martínez Salcedo, Helena Alarcón Martínez, Alberto Puche Mira, Carlos Casas Fernández
    Pages 75-78
  13. Giovanni V. Coppa, Dania Buzzega, Lucia Zampini, Francesca Maccari, Lucia Santoro, Fabio Galeotti et al.
    Pages 79-90
  14. Manuel Méndez, Barbara X. Granata, María J. Morán Jiménez, Victoria E. Parera, Alcira Batlle, Rafael Enríquez de Salamanca et al.
    Pages 91-97
  15. Evelien Zoons, Tom J. de Koning, Nico G. G. M. Abeling, Marina A. J. Tijssen
    Pages 99-102
  16. S. Huybrechts, C. De Laet, P. Bontems, S. Rooze, H. Souayah, Y. Sznajer et al.
    Pages 103-108
  17. Muhammad Ali Pervaiz, Gerald Gau, Allan S. Jaffe, Amy K. Saenger, Linnea Baudhuin, Jay Ellison
    Pages 109-111
  18. Ruud HJ Verstegen, Miranda Theodore, Hans van de Klerk, Eva Morava
    Pages 113-116
  19. Maria Francisca Coutinho, Liliana da Silva Santos, Lúcia Lacerda, Sofia Quental, Flemming Wibrand, Allan M. Lund et al.
    Pages 117-124
  20. C. R. D. C. Quaio, H. Grinberg, M. L. C. Vieira, A. C. Paula, G. N. Leal, I. Gomy et al.
    Pages 125-128

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

endocrinology inherited metabolic diseases medical genetics pediatrics

Editors and affiliations

  • c/o ACB
    • 1
  1. 1.c/o ACBLondonUnited Kingdom

Bibliographic information

  • DOI https://doi.org/10.1007/978-3-642-25752-0
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2012
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine
  • Print ISBN 978-3-642-25751-3
  • Online ISBN 978-3-642-25752-0
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • About this book
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