JIMD Reports

JIMD Reports, Volume 36

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 $149.00
price for USA (gross)
  • ISBN 978-3-662-56138-6
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  • Immediate eBook download after purchase
Softcover $189.00
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  • ISBN 978-3-662-56137-9
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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.

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Table of contents (4 chapters)

  • False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency

    Stuhrman, Grace (et al.)

    Pages 1-5

  • The Spectrum of Niemann-Pick Type C Disease in Greece

    Mavridou, Irene (et al.)

    Pages 41-48

  • What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients?

    Dam, Esther (et al.)

    Pages 49-57

  • An Audit of the Use of Gonadorelin Analogues to Prevent Recurrent Acute Symptoms in Patients with Acute Porphyria in the United Kingdom

    Schulenburg-Brand, Danja (et al.)

    Pages 99-107

Buy this book

eBook $149.00
price for USA (gross)
  • ISBN 978-3-662-56138-6
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $189.00
price for USA
  • ISBN 978-3-662-56137-9
  • 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 36
Editors
  • Eva Morava
  • Matthias Baumgartner
  • Marc Patterson
  • Shamima Rahman
  • Johannes Zschocke
  • Verena Peters
Series Title
JIMD Reports
Series Volume
36
Copyright
2017
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
Society for the Study of Inborn Errors of Metabolism (SSIEM)
eBook ISBN
978-3-662-56138-6
DOI
10.1007/978-3-662-56138-6
Softcover ISBN
978-3-662-56137-9
Series ISSN
2192-8304
Edition Number
1
Number of Pages
VI, 120
Number of Illustrations and Tables
9 b/w illustrations, 11 illustrations in colour
Topics