JIMD Reports - Volume 12

  • Johannes Zschocke
  • K Michael Gibson
  • Garry Brown
  • Eva Morava
  • Verena Peters

Part of the JIMD Reports book series (JIMD, volume 12)

Table of contents

  1. Front Matter
    Pages i-vi
  2. Carolina Arias, Erna Raimann, Pilar Peredo, Juan Francisco Cabello, Gabriela Castro, Alf Valiente et al.
    Pages 1-4
  3. H. J. Vernon, S. Bagnasco, A. Hamosh, C. J. Sperati
    Pages 5-10
  4. Natalie B. Miller, Avraham Beigelman, Elizabeth Utterson, Marwan Shinawi
    Pages 11-15
  5. Fady Hannah-Shmouni, Sandra Sirrs, Michelle M. Mezei, Paula J. Waters, Andre Mattman
    Pages 17-23
  6. Renzo Manara, Daniela Concolino, Angelica Rampazzo, Alessandra Zanetti, Rossella Tomanin, Roberto Faggin et al.
    Pages 31-35
  7. Jessica Nouws, Flemming Wibrand, Mariël van den Brand, Hanka Venselaar, Morten Duno, Allan M. Lund et al.
    Pages 37-45
  8. Nada Jassim, Mohammed AlGhaihab, Suhail Al Saleh, Majid Alfadhel, Mirjam M. C. Wamelink, Wafaa Eyaid
    Pages 47-50
  9. Jayesh Sheth, Mehul Mistri, Frenny Sheth, Raju Shah, Ashish Bavdekar, Koumudi Godbole et al.
    Pages 51-63
  10. Tomoyuki Akiyama, Hitoshi Osaka, Hiroko Shimbo, Tomoshi Nakajiri, Katsuhiro Kobayashi, Makio Oka et al.
    Pages 65-69
  11. Natalia Santos Ferreira, Michal Goldschmidt-Arzi, Helena Sabanay, Judith Storch, Thierry Levade, Maria Gil Ribeiro et al.
    Pages 71-77
  12. Matthew A. Lines, C. Anthony Rupar, Jack W. Rip, Berivan Baskin, Peter N. Ray, Robert A. Hegele et al.
    Pages 79-84
  13. Sepideh Nazi, Farzaneh Rohani, Firoozeh Sajedi, Akbar Biglarian, Arya Setoodeh
    Pages 85-89
  14. J. Baruteau, A. Broomfield, V. Crook, N. Finnegan, K. Harvey, D. Burke et al.
    Pages 99-102
  15. Lubov Blumkin, Esther Leshinsky-Silver, Ayelet Zerem, Keren Yosovich, Tally Lerman-Sagie, Dorit Lev
    Pages 103-107
  16. Charles A. LeDuc, Elizabeth E. Crouch, Ashley Wilson, Jay Lefkowitch, Mirjam M. C. Wamelink, Cornelis Jakobs et al.
    Pages 121-127

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

endocrinology inherited metabolic diseases medical genetics pediatrics

Editors and affiliations

  • Johannes Zschocke
    • 1
  • K Michael Gibson
    • 2
  • Garry Brown
    • 3
  • Eva Morava
    • 4
  • Verena Peters
    • 5
  1. 1.Division of Human GeneticsMedical University InnsbruckInnsbruckAustria
  2. 2.College of PharmacyWashington State University Clinical PharmacologyPullmanUSA
  3. 3.Department of Biochemistry Genetics UnitUniversity of OxfordOxfordUnited Kingdom
  4. 4.Department of Pediatrics IGMDRadboud University Nijmegen Medical CenterNijmegenThe Netherlands
  5. 5.Center for Child and Adolescent Medicine Heidelberg University HospitalHeidelbergGermany

Bibliographic information

  • DOI https://doi.org/10.1007/978-3-319-03461-4
  • Copyright Information SSIEM and Springer International Publishing Switzerland 2014
  • Publisher Name Springer, Cham
  • eBook Packages Medicine
  • Print ISBN 978-3-319-03460-7
  • Online ISBN 978-3-319-03461-4
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • About this book