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JIMD Reports

JIMD Reports, Volume 41

Focus Issue: Adults and Metabolism

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

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  • 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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  • ISBN 978-3-662-58081-3
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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)

Table of contents (16 chapters)
  • Assessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excretion in Patients with Alkaptonuria After 4 Weeks of Treatment

    Pages 1-10

    Davison, A. S. (et al.)

  • Severe Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ramadan Fasting Month in a Patient with CPTII Homozygous Mutation

    Pages 11-16

    Phowthongkum, P. (et al.)

  • Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease

    Pages 17-23

    Stepien, Karolina M. (et al.)

  • Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an Example

    Pages 25-27

    Cotton, Adam C. (et al.)

  • Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1

    Pages 29-36

    Stepien, Karolina M. (et al.)

Buy this book

eBook $89.00
price for USA in USD
  • ISBN 978-3-662-58081-3
  • Digitally watermarked, DRM-free
  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $119.99
price for USA in USD
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Bibliographic Information

Bibliographic Information
Book Title
JIMD Reports, Volume 41
Book Subtitle
Focus Issue: Adults and Metabolism
Editors
  • Eva Morava
  • Matthias Baumgartner
  • Marc Patterson
  • Shamima Rahman
  • Johannes Zschocke
  • Verena Peters
Series Title
JIMD Reports
Series Volume
41
Copyright
2018
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
Society for the Study of Inborn Errors of Metabolism (SSIEM)
eBook ISBN
978-3-662-58081-3
DOI
10.1007/978-3-662-58081-3
Softcover ISBN
978-3-662-58080-6
Series ISSN
2192-8304
Edition Number
1
Number of Pages
VI, 131
Number of Illustrations
9 b/w illustrations, 13 illustrations in colour
Topics

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