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JIMD Reports

JIMD Reports, Volume 43

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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  • ISBN 978-3-662-58614-3
  • Digitally watermarked, DRM-free
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  • ISBN 978-3-662-58613-6
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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 (15 chapters)

Table of contents (15 chapters)
  • Normal Growth in PKU Patients Under Low-Protein Diet in a Single-Center Cross-Sectional Study

    Matic, Jana (et al.)

    Pages 1-6

  • Serial Magnetic Resonance Imaging and 1H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report

    Ichikawa, Kazushi (et al.)

    Pages 7-12

  • Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment

    Koenig, Mary Kay (et al.)

    Pages 13-17

  • Cognitive and Behavioural Outcomes of Paediatric Liver Transplantation for Ornithine Transcarbamylase Deficiency

    Crowe, Louise (et al.)

    Pages 19-25

  • Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation

    Renesse, Anja (et al.)

    Pages 27-35

Buy this book

eBook n/a
  • ISBN 978-3-662-58614-3
  • Digitally watermarked, DRM-free
  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
Softcover n/a
  • ISBN 978-3-662-58613-6
  • Free shipping for individuals worldwide
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Bibliographic Information

Bibliographic Information
Book Title
JIMD Reports, Volume 43
Editors
  • Eva Morava
  • Matthias Baumgartner
  • Marc Patterson
  • Shamima Rahman
  • Johannes Zschocke
  • Verena Peters
Series Title
JIMD Reports
Series Volume
43
Copyright
2019
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
Society for the Study of Inborn Errors of Metabolism (SSIEM)
eBook ISBN
978-3-662-58614-3
DOI
10.1007/978-3-662-58614-3
Softcover ISBN
978-3-662-58613-6
Series ISSN
2192-8304
Edition Number
1
Number of Pages
VI, 124
Number of Illustrations
15 b/w illustrations, 20 illustrations in colour
Topics