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JIMD Reports

JIMD Reports, Volume 30

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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eBook $84.99
price for USA in USD (gross)
  • ISBN 978-3-662-53681-0
  • Digitally watermarked, DRM-free
  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $109.99
price for USA in USD
  • ISBN 978-3-662-53680-3
  • 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.

Table of contents (16 chapters)

Table of contents (16 chapters)
  • Multidisciplinary Team Approach Is Key for Managing Pregnancy and Delivery in Patient with Rare, Complex MPS I

    Pages 1-5

    Troko, J. (et al.)

  • Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux–Lamy Syndrome

    Pages 7-14

    Pineda, M. (et al.)

  • A New Approach for Fast Metabolic Diagnostics in CMAMMA

    Pages 15-22

    Sain-van der Velden, Monique G. M. (et al.)

  • Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum

    Pages 23-31

    Sala, P. Ruiz (et al.)

  • ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis

    Pages 33-37

    Ganetzky, Rebecca D. (et al.)

Buy this book

eBook $84.99
price for USA in USD (gross)
  • ISBN 978-3-662-53681-0
  • Digitally watermarked, DRM-free
  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $109.99
price for USA in USD
  • ISBN 978-3-662-53680-3
  • 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 30
Editors
  • Eva Morava
  • Matthias Baumgartner
  • Marc Patterson
  • Shamima Rahman
  • Johannes Zschocke
  • Verena Peters
Series Title
JIMD Reports
Series Volume
30
Copyright
2016
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
SSIEM and Springer-Verlag Berlin Heidelberg
eBook ISBN
978-3-662-53681-0
DOI
10.1007/978-3-662-53681-0
Softcover ISBN
978-3-662-53680-3
Series ISSN
2192-8304
Edition Number
1
Number of Pages
VI, 108
Number of Illustrations
7 b/w illustrations, 13 illustrations in colour
Topics