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JIMD Reports

JIMD Reports, Volume 15

Editors: Zschocke, J., Gibson, K.M., Brown, G., Morava-Kozicz, E., 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 978-3-662-43751-3
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Softcover $139.99
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  • ISBN 978-3-662-43750-6
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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 (16 chapters)

Table of contents (16 chapters)
  • 4-Hydroxyglutamate Is a Biomarker for Primary Hyperoxaluria Type 3

    Pages 1-6

    Pitt, James J (et al.)

  • Excellent Response to a Ketogenic Diet in a Patient with Alternating Hemiplegia of Childhood

    Pages 7-12

    Roubergue, Anne (et al.)

  • Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment

    Pages 13-27

    Dongen, Sanne (et al.)

  • Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes

    Pages 29-37

    Farwell Gonzalez, Kelly D. (et al.)

  • Report of Two Never Treated Adult Sisters with Aromatic l-Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding Phenotype?

    Pages 39-45

    Leuzzi, Vincenzo (et al.)

Buy this book

eBook $109.00
price for USA in USD
  • ISBN 978-3-662-43751-3
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $139.99
price for USA in USD
  • ISBN 978-3-662-43750-6
  • 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 15
Editors
  • Johannes Zschocke
  • K. Michael Gibson
  • Garry Brown
  • Eva Morava-Kozicz
  • Verena Peters
Series Title
JIMD Reports
Series Volume
15
Copyright
2015
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
SSIEM and Springer-Verlag Berlin Heidelberg
eBook ISBN
978-3-662-43751-3
DOI
10.1007/978-3-662-43751-3
Softcover ISBN
978-3-662-43750-6
Series ISSN
2192-8304
Edition Number
1
Number of Pages
VIII, 139
Number of Illustrations
30 b/w illustrations
Topics

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