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JIMD Reports

JIMD Reports, Volume 23

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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  • ISBN 978-3-662-47467-9
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Softcover $139.99
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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)
  • Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic Model

    Pages 1-6

    Coelho, Ana I. (et al.)

  • Effect and Tolerability of Agalsidase Alfa in Patients with Fabry Disease Who Were Treatment Naïve or Formerly Treated with Agalsidase Beta or Agalsidase Alfa

    Pages 7-15

    Goker-Alpan, Ozlem (et al.)

  • Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype

    Pages 17-26

    Reunert, J. (et al.)

  • The Modulatory Effects of the Polymorphisms in GLA 5′-Untranslated Region Upon Gene Expression Are Cell-Type Specific

    Pages 27-34

    Ferreira, Susana (et al.)

  • The Kuvan® Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in Phenylketonuria Patients Responsive to Sapropterin

    Pages 35-43

    Trefz, Friedrich K. (et al.)

Buy this book

eBook $109.00
price for USA in USD
  • ISBN 978-3-662-47467-9
  • Digitally watermarked, DRM-free
  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $139.99
price for USA in USD
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Bibliographic Information

Bibliographic Information
Book Title
JIMD Reports, Volume 23
Editors
  • Johannes Zschocke
  • Matthias Baumgartner
  • Eva Morava-Kozicz
  • Marc Patterson
  • Shamima Rahman
  • Verena Peters
Series Title
JIMD Reports
Series Volume
23
Copyright
2015
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
SSIEM and Springer-Verlag Berlin Heidelberg
eBook ISBN
978-3-662-47467-9
DOI
10.1007/978-3-662-47467-9
Softcover ISBN
978-3-662-47466-2
Series ISSN
2192-8304
Edition Number
1
Number of Pages
VI, 127
Number of Illustrations
17 b/w illustrations, 13 illustrations in colour
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