JIMD Reports, Volume 42
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 disorders
- Contains 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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Acute Pancreatitis Secondary to Severe Hypertriglyceridaemia in a Patient with Type 1a Glycogen Storage Disease: Emergent Use of Plasmapheresis
Pages 1-4
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A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy
Pages 5-8
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Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa
Pages 9-17
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EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders
Pages 19-29
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Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair
Pages 31-36
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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 42
- Editors
-
- Eva Morava
- Matthias Baumgartner
- Marc Patterson
- Shamima Rahman
- Johannes Zschocke
- Verena Peters
- Series Title
- JIMD Reports
- Series Volume
- 42
- Copyright
- 2018
- Publisher
- Springer-Verlag Berlin Heidelberg
- Copyright Holder
- Society for the Study of Inborn Errors of Metabolism (SSIEM)
- eBook ISBN
- 978-3-662-58365-4
- DOI
- 10.1007/978-3-662-58365-4
- Softcover ISBN
- 978-3-662-58364-7
- Series ISSN
- 2192-8304
- Edition Number
- 1
- Number of Pages
- VI, 119
- Number of Illustrations
- 6 b/w illustrations, 12 illustrations in colour
- Topics
