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JIMD Reports

JIMD Reports, Volume 44

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 $89.00
price for USA in USD (gross)
  • ISBN 978-3-662-58617-4
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $119.99
price for USA in USD
  • ISBN 978-3-662-58616-7
  • 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)
  • A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy

    Pages 1-7

    Iuso, Arcangela (et al.)

  • Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency

    Pages 9-15

    Lee-Barber, Jasmine (et al.)

  • Sialuria: Ninth Patient Described Has a Novel Mutation in GNE

    Pages 17-21

    Martinez, Noelia Nunez (et al.)

  • Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked Adrenoleukodystrophy

    Pages 23-31

    Morita, Masashi (et al.)

  • Psychosocial Functioning in Parents of MPS III Patients

    Pages 33-41

    Conijn, Thirsa (et al.)

Buy this book

eBook $89.00
price for USA in USD (gross)
  • ISBN 978-3-662-58617-4
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $119.99
price for USA in USD
  • ISBN 978-3-662-58616-7
  • 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 44
Editors
  • Eva Morava
  • Matthias Baumgartner
  • Marc Patterson
  • Shamima Rahman
  • Johannes Zschocke
  • Verena Peters
Series Title
JIMD Reports
Series Volume
44
Copyright
2019
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
Society for the Study of Inborn Errors of Metabolism (SSIEM)
eBook ISBN
978-3-662-58617-4
DOI
10.1007/978-3-662-58617-4
Softcover ISBN
978-3-662-58616-7
Series ISSN
2192-8304
Edition Number
1
Number of Pages
VI, 119
Number of Illustrations
10 b/w illustrations, 22 illustrations in colour
Topics