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JIMD Reports

JIMD Reports, Volume 19

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
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  • ISBN 978-3-662-46190-7
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Softcover $149.99
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  • ISBN 978-3-662-46189-1
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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)
  • A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia

    Pages 1-6

    Tran, Thanh-Thanh (Claire) V. (et al.)

  • Refsum Disease Presenting with a Late-Onset Leukodystrophy

    Pages 7-10

    Bompaire, Flavie (et al.)

  • Making the White Matter Matters: Progress in Understanding Canavan’s Disease and Therapeutic Interventions Through Eight Decades

    Pages 11-22

    Ahmed, Seemin S. (et al.)

  • Disordered Eating and Body Esteem Among Individuals with Glycogen Storage Disease

    Pages 23-29

    Flanagan, Theresa B. (et al.)

  • One Year Experience of Pheburane® (Sodium Phenylbutyrate) Treatment in a Patient with Argininosuccinate Lyase Deficiency

    Pages 31-33

    Uçar, Sema Kalkan (et al.)

Buy this book

eBook $109.00
price for USA in USD
  • ISBN 978-3-662-46190-7
  • Digitally watermarked, DRM-free
  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $149.99
price for USA in USD
  • ISBN 978-3-662-46189-1
  • Free shipping for individuals worldwide
  • Immediate ebook access, if available*, with your print order
  • Usually dispatched within 3 to 5 business days.
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Bibliographic Information

Bibliographic Information
Book Title
JIMD Reports, Volume 19
Editors
  • Johannes Zschocke
  • Matthias Baumgartner
  • Eva Morava-Kozicz
  • Marc Patterson
  • Shamima Rahman
  • Verena Peters
Series Title
JIMD Reports
Series Volume
19
Copyright
2015
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
SSIEM and Springer-Verlag Berlin Heidelberg
eBook ISBN
978-3-662-46190-7
DOI
10.1007/978-3-662-46190-7
Softcover ISBN
978-3-662-46189-1
Series ISSN
2192-8304
Edition Number
1
Number of Pages
VI, 121
Number of Illustrations
5 b/w illustrations, 17 illustrations in colour
Topics

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