JIMD Reports

JIMD Reports, Volume 27

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 978-3-662-50409-3
  • 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 978-3-662-50408-6
  • 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)
  • Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion

    Antoun, Ghadi (et al.)

    Pages 1-9

  • Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

    Bala, P. (et al.)

    Pages 11-15

  • Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders

    Fernandez-Guerra, Paula (et al.)

    Pages 17-26

  • SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature)

    Maas, Roeltje R. (et al.)

    Pages 27-32

  • Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD)

    Jeyaratnam, Jerold (et al.)

    Pages 33-38

Buy this book

eBook $84.99
price for USA in USD (gross)
  • ISBN 978-3-662-50409-3
  • 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 978-3-662-50408-6
  • 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 27
Editors
  • Eva Morava
  • Matthias Baumgartner
  • Marc Patterson
  • Shamima Rahman
  • Johannes Zschocke
  • Verena Peters
Series Title
JIMD Reports
Series Volume
27
Copyright
2016
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
SSIEM and Springer-Verlag Berlin Heidelberg
eBook ISBN
978-3-662-50409-3
DOI
10.1007/978-3-662-50409-3
Softcover ISBN
978-3-662-50408-6
Series ISSN
2192-8304
Edition Number
1
Number of Pages
VI, 112
Number of Illustrations
14 b/w illustrations, 14 illustrations in colour
Topics