JIMD Reports

JIMD Reports, Volume 42

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 disorders
  • Contains unusual or previously unrecorded features relevant to metabolic disorders
  • All contributions rigorously peer-reviewed
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eBook 85,59 €
price for Spain (gross)
  • ISBN 978-3-662-58365-4
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
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  • Immediate eBook download after purchase
Softcover 103,99 €
price for Spain (gross)
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)
  • Acute Pancreatitis Secondary to Severe Hypertriglyceridaemia in a Patient with Type 1a Glycogen Storage Disease: Emergent Use of Plasmapheresis

    Pages 1-4

    Rivers, E. (et al.)

  • A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy

    Pages 5-8

    Prasad, Raajiv (et al.)

  • Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa

    Pages 9-17

    Berger, Kenneth I. (et al.)

  • EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders

    Pages 19-29

    Balasubramaniam, Shanti (et al.)

  • Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair

    Pages 31-36

    Jacobsen, Jessie C. (et al.)

Buy this book

eBook 85,59 €
price for Spain (gross)
  • ISBN 978-3-662-58365-4
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover 103,99 €
price for Spain (gross)
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Bibliographic Information

Bibliographic Information
Book Title
JIMD Reports, Volume 42
Editors
  • Eva Morava
  • Matthias Baumgartner
  • Marc Patterson
  • Shamima Rahman
  • Johannes Zschocke
  • Verena Peters
Series Title
JIMD Reports
Series Volume
42
Copyright
2018
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
Society for the Study of Inborn Errors of Metabolism (SSIEM)
eBook ISBN
978-3-662-58365-4
DOI
10.1007/978-3-662-58365-4
Softcover ISBN
978-3-662-58364-7
Series ISSN
2192-8304
Edition Number
1
Number of Pages
VI, 119
Number of Illustrations
6 b/w illustrations, 12 illustrations in colour
Topics