JIMD Reports

JIMD Reports, Volume 31

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

Free Preview
  • 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
Show all benefits

Buy this book

eBook $84.99
price for USA in USD (gross)
  • ISBN 978-3-662-54119-7
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $109.99
price for USA in USD
  • ISBN 978-3-662-54118-0
  • 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)
  • Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents

    Zeltner, Nina A. (et al.)

    Pages 1-9

  • Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase Deficiency

    Laemmle, Alexander (et al.)

    Pages 11-14

  • Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders

    Verma, Jyotsna (et al.)

    Pages 15-27

  • Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders

    Brown, Amy (et al.)

    Pages 29-36

  • Sleep Disturbance, Obstructive Sleep Apnoea and Abnormal Periodic Leg Movements: Very Common Problems in Fabry Disease

    Talbot, Andrew (et al.)

    Pages 37-44

Buy this book

eBook $84.99
price for USA in USD (gross)
  • ISBN 978-3-662-54119-7
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $109.99
price for USA in USD
  • ISBN 978-3-662-54118-0
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
Loading...

Recommended for you

Loading...

Bibliographic Information

Bibliographic Information
Book Title
JIMD Reports, Volume 31
Editors
  • Eva Morava
  • Matthias Baumgartner
  • Marc Patterson
  • Shamima Rahman
  • Johannes Zschocke
  • Verena Peters
Series Title
JIMD Reports
Series Volume
31
Copyright
2017
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
SSIEM and Springer-Verlag Berlin Heidelberg
eBook ISBN
978-3-662-54119-7
DOI
10.1007/978-3-662-54119-7
Softcover ISBN
978-3-662-54118-0
Series ISSN
2192-8304
Edition Number
1
Number of Pages
VI, 111
Number of Illustrations
6 b/w illustrations, 14 illustrations in colour
Topics