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JIMD Reports

JIMD Reports, Volume 18

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 $84.99
price for USA in USD (gross)
  • ISBN 978-3-662-44863-2
  • 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 978-3-662-44862-5
  • 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)
  • Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux–Lamy Syndrome)

    Pages 1-11

    Quartel, Adrian (et al.)

  • Treatment Adherence in Type 1 Hereditary Tyrosinaemia (HT1): A Mixed-Method Investigation into the Beliefs, Attitudes and Behaviour of Adolescent Patients, Their Families and Their Health-Care Team

    Pages 13-22

    Malik, Sumaira (et al.)

  • Regression of Hepatocellular Adenomas with Strict Dietary Therapy in Patients with Glycogen Storage Disease Type I

    Pages 23-32

    Beegle, Richard D. (et al.)

  • Proteasome Inhibitor Bortezomib Enhances the Activity of Multiple Mutant Forms of Lysosomal α-Glucosidase in Pompe Disease

    Pages 33-39

    Shimada, Yohta (et al.)

  • Cognitive Function in Adults Aging with Fabry Disease: A Case–Control Feasibility Study Using Telephone-Based Assessments

    Pages 41-50

    Wadley, Virginia G. (et al.)

Buy this book

eBook $84.99
price for USA in USD (gross)
  • ISBN 978-3-662-44863-2
  • 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 978-3-662-44862-5
  • 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 18
Editors
  • Johannes Zschocke
  • Matthias Baumgartner
  • Eva Morava-Kozicz
  • Marc Patterson
  • Shamima Rahman
  • Verena Peters
Series Title
JIMD Reports
Series Volume
18
Copyright
2015
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
SSIEM and Springer-Verlag Berlin Heidelberg
eBook ISBN
978-3-662-44863-2
DOI
10.1007/978-3-662-44863-2
Softcover ISBN
978-3-662-44862-5
Series ISSN
2192-8304
Edition Number
1
Number of Pages
VI, 137
Number of Illustrations
17 b/w illustrations, 17 illustrations in colour
Topics