JIMD Reports

JIMD Reports, Volume 17

Editors: Zschocke, J., Gibson, K.M., Brown, G., Morava, E., Peters, V. (Eds.)

  • 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 (gross)
  • ISBN 978-3-662-44578-5
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $139.00
price for USA
  • ISBN 978-3-662-44577-8
  • 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)

  • Reversible Keratopathy Due to Hypertyrosinaemia Following Intermittent Low-Dose Nitisinone in Alkaptonuria: A Case Report

    Stewart, R. M. K. (et al.)

    Pages 1-6

  • Sports in LCHAD Deficiency: Maximal Incremental and Endurance Exercise Tests in a 13-Year-Old Patient with Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHADD) and Heptanoate Treatment

    Karall, D. (et al.)

    Pages 7-12

  • A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus

    Zanetti, Alessandra (et al.)

    Pages 13-21

  • Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis

    Helman, Guy (et al.)

    Pages 23-27

  • Antiepileptic Medications Increase Osteoporosis Risk in Male Fabry Patients: Bone Mineral Density in an Australian Cohort

    Talbot, Andrew (et al.)

    Pages 29-36

Buy this book

eBook $109.00
price for USA (gross)
  • ISBN 978-3-662-44578-5
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $139.00
price for USA
  • ISBN 978-3-662-44577-8
  • 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 17
Editors
  • Johannes Zschocke
  • K. Michael Gibson
  • Garry Brown
  • Eva Morava
  • Verena Peters
Series Title
JIMD Reports
Series Volume
17
Copyright
2014
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
SSIEM and Springer-Verlag Berlin Heidelberg
eBook ISBN
978-3-662-44578-5
DOI
10.1007/978-3-662-44578-5
Softcover ISBN
978-3-662-44577-8
Series ISSN
2192-8304
Edition Number
1
Number of Pages
VI, 97
Number of Illustrations and Tables
8 illustrations in colour
Topics