JIMD Reports

JIMD Reports, Volume 20

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

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  • Unique collection of case and research reports on rare metabolic disorders
  • Contains unusual or previously unrecorded features relevant to metabolic disorders
  • All contributions rigorously peer-reviewed
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eBook $109.00
price for USA in USD (gross)
  • ISBN 978-3-662-46700-8
  • Digitally watermarked, DRM-free
  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $139.99
price for USA in USD
  • ISBN 978-3-662-46699-5
  • 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)
  • Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings

    Castro, Mauricio (et al.)

    Pages 1-4

  • Expanding Our Understanding of Lower Urinary Tract Symptoms and Incontinence in Adults with Pompe Disease

    McNamara, Erin R. (et al.)

    Pages 5-10

  • Carnitine-Acylcarnitine Translocase Deficiency: Experience with Four Cases in Spain and Review of the Literature

    Vitoria, Isidro (et al.)

    Pages 11-20

  • Lack of Glibenclamide Response in a Case of Permanent Neonatal Diabetes Caused by Incomplete Inactivation of Glucokinase

    Oriola, Josep (et al.)

    Pages 21-26

  • Morphology and Function of Cerebral Arteries in Adults with Pompe Disease

    Hensel, Ole (et al.)

    Pages 27-33

Buy this book

eBook $109.00
price for USA in USD (gross)
  • ISBN 978-3-662-46700-8
  • Digitally watermarked, DRM-free
  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $139.99
price for USA in USD
  • ISBN 978-3-662-46699-5
  • 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 20
Editors
  • Johannes Zschocke
  • Matthias Baumgartner
  • Eva Morava-Kozicz
  • Marc Patterson
  • Shamima Rahman
  • Verena Peters
Series Title
JIMD Reports
Series Volume
20
Copyright
2015
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
SSIEM and Springer-Verlag Berlin Heidelberg
eBook ISBN
978-3-662-46700-8
DOI
10.1007/978-3-662-46700-8
Softcover ISBN
978-3-662-46699-5
Series ISSN
2192-8304
Edition Number
1
Number of Pages
VI, 120
Number of Illustrations
18 b/w illustrations, 10 illustrations in colour
Topics