JIMD Reports, Volume 28
Editors: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (Eds.)
Free Preview- 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.
- Table of contents (15 chapters)
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Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency
Pages 1-10
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Novel Direct Assay for Acetyl-CoA:α-Glucosaminide N-Acetyltransferase Using BODIPY-Glucosamine as a Substrate
Pages 11-18
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Electrical Changes in Resting, Exercise, and Holter Electrocardiography in Fabry Cardiomyopathy
Pages 19-28
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The Nutritional Intake of Patients with Organic Acidaemias on Enteral Tube Feeding: Can We Do Better?
Pages 29-39
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Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease
Pages 41-47
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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 28
- Editors
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- Eva Morava
- Matthias Baumgartner
- Marc Patterson
- Shamima Rahman
- Johannes Zschocke
- Verena Peters
- Series Title
- JIMD Reports
- Series Volume
- 28
- Copyright
- 2016
- Publisher
- Springer-Verlag Berlin Heidelberg
- Copyright Holder
- SSIEM and Springer-Verlag Berlin Heidelberg
- eBook ISBN
- 978-3-662-52847-1
- DOI
- 10.1007/978-3-662-52847-1
- Softcover ISBN
- 978-3-662-52846-4
- Series ISSN
- 2192-8304
- Edition Number
- 1
- Number of Pages
- VI, 135
- Topics
