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JIMD Reports

JIMD Reports, Volume 38

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 $89.00
price for USA in USD (gross)
  • ISBN 978-3-662-56610-7
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $119.99
price for USA in USD
  • ISBN 978-3-662-56609-1
  • Free shipping for individuals worldwide
  • 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.
The chapter 'Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1 (HT-1)' is open access under a CC BY 4.0 license via link.springer.com.

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Table of contents (15 chapters)

  • First Successful Conception Induced by a Male Cystinosis Patient

    Veys, Koenraad R. (et al.)

    Pages 1-6

  • Glutaric Acidemia Type 1: A Case of Infantile Stroke

    Kaya Ozcora, Gül Demet (et al.)

    Pages 7-12

  • Treatment of Depression in Adults with Fabry Disease

    Ali, Nadia (et al.)

    Pages 13-21

  • Mutations in GMPPB Presenting with Pseudometabolic Myopathy

    Panicucci, Chiara (et al.)

    Pages 23-31

  • Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations

    Angelini, Corrado (et al.)

    Pages 33-40

Buy this book

eBook $89.00
price for USA in USD (gross)
  • ISBN 978-3-662-56610-7
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $119.99
price for USA in USD
  • ISBN 978-3-662-56609-1
  • 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 38
Editors
  • Eva Morava
  • Matthias Baumgartner
  • Marc Patterson
  • Shamima Rahman
  • Johannes Zschocke
  • Verena Peters
Series Title
JIMD Reports
Series Volume
38
Copyright
2018
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
Society for the Study of Inborn Errors of Metabolism (SSIEM)
eBook ISBN
978-3-662-56610-7
DOI
10.1007/978-3-662-56610-7
Softcover ISBN
978-3-662-56609-1
Series ISSN
2192-8304
Edition Number
1
Number of Pages
VI, 105
Number of Illustrations and Tables
13 b/w illustrations, 7 illustrations in colour
Topics