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JIMD Reports

JIMD Reports, Volume 28

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 978-3-662-52847-1
  • 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 978-3-662-52846-4
  • 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 (15 chapters)

Table of contents (15 chapters)
  • Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency

    Pages 1-10

    Lagoutte-Renosi, Jennifer (et al.)

  • Novel Direct Assay for Acetyl-CoA:α-Glucosaminide N-Acetyltransferase Using BODIPY-Glucosamine as a Substrate

    Pages 11-18

    Choi, Yoo (et al.)

  • Electrical Changes in Resting, Exercise, and Holter Electrocardiography in Fabry Cardiomyopathy

    Pages 19-28

    Krämer, Johannes (et al.)

  • The Nutritional Intake of Patients with Organic Acidaemias on Enteral Tube Feeding: Can We Do Better?

    Pages 29-39

    Daly, Anne (et al.)

  • Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease

    Pages 41-47

    Hoogeveen, Irene J. (et al.)

Buy this book

eBook $84.99
price for USA in USD (gross)
  • ISBN 978-3-662-52847-1
  • 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 978-3-662-52846-4
  • 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 28
Editors
  • Eva Morava
  • Matthias Baumgartner
  • Marc Patterson
  • Shamima Rahman
  • Johannes Zschocke
  • Verena Peters
Series Title
JIMD Reports
Series Volume
28
Copyright
2016
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
SSIEM and Springer-Verlag Berlin Heidelberg
eBook ISBN
978-3-662-52847-1
DOI
10.1007/978-3-662-52847-1
Softcover ISBN
978-3-662-52846-4
Series ISSN
2192-8304
Edition Number
1
Number of Pages
VI, 135
Topics