JIMD Reports

JIMD Reports, Volume 35

Editors: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (Eds.)

  • Unique collection of case and research reports on rare metabolic disordersContains unusual or previously unrecorded features relevant to metabolic disorders
  • All contributions rigorously peer-reviewed
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eBook $109.00
price for USA (gross)
  • ISBN 978-3-662-55833-1
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $139.00
price for USA
  • ISBN 978-3-662-55832-4
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  • Usually dispatched within 3 to 5 business days.
About this book

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.

Table of contents (16 chapters)

  • Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability

    Larson, Austin (et al.)

    Pages 1-5

  • Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants

    Morton, Sarah U. (et al.)

    Pages 7-15

  • Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children’s Hospital

    Martín-Begué, Nieves (et al.)

    Pages 17-22

  • Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch–Nyhan Disease: A Case Report and Review of the Literature

    Christy, Alison (et al.)

    Pages 23-28

  • Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient

    Maines, E. (et al.)

    Pages 29-31

Buy this book

eBook $109.00
price for USA (gross)
  • ISBN 978-3-662-55833-1
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $139.00
price for USA
  • ISBN 978-3-662-55832-4
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
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Bibliographic Information

Bibliographic Information
Book Title
JIMD Reports, Volume 35
Editors
  • Eva Morava
  • Matthias Baumgartner
  • Marc Patterson
  • Shamima Rahman
  • Johannes Zschocke
  • Verena Peters
Series Title
JIMD Reports
Series Volume
35
Copyright
2017
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
Society for the Study of Inborn Errors of Metabolism (SSIEM)
eBook ISBN
978-3-662-55833-1
DOI
10.1007/978-3-662-55833-1
Softcover ISBN
978-3-662-55832-4
Series ISSN
2192-8304
Edition Number
1
Number of Pages
VI, 117
Number of Illustrations and Tables
10 b/w illustrations, 10 illustrations in colour
Topics