JIMD Reports, Volume 38
Editors: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (Eds.)
- Unique collection of case and research reports on rare metabolic disordersContains unusual or previously unrecorded features relevant to metabolic disorders
- All contributions rigorously peer-reviewed
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- About this book
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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.
The chapter 'Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1 (HT-1)' is open access under a CC BY 4.0 license via link.springer.com. - About the authors
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- Reviews
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- Table of contents (15 chapters)
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First Successful Conception Induced by a Male Cystinosis Patient
Pages 1-6
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Glutaric Acidemia Type 1: A Case of Infantile Stroke
Pages 7-12
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Treatment of Depression in Adults with Fabry Disease
Pages 13-21
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Mutations in GMPPB Presenting with Pseudometabolic Myopathy
Pages 23-31
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Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations
Pages 33-40
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Table of contents (15 chapters)
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Bibliographic Information
- Bibliographic Information
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- Book Title
- JIMD Reports, Volume 38
- Editors
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- Eva Morava
- Matthias Baumgartner
- Marc Patterson
- Shamima Rahman
- Johannes Zschocke
- Verena Peters
- Series Title
- JIMD Reports
- Series Volume
- 38
- Copyright
- 2018
- Publisher
- Springer-Verlag Berlin Heidelberg
- Copyright Holder
- Society for the Study of Inborn Errors of Metabolism (SSIEM)
- eBook ISBN
- 978-3-662-56610-7
- DOI
- 10.1007/978-3-662-56610-7
- Softcover ISBN
- 978-3-662-56609-1
- Series ISSN
- 2192-8304
- Edition Number
- 1
- Number of Pages
- VI, 105
- Number of Illustrations
- 13 b/w illustrations, 7 illustrations in colour
- Topics
