Skip to main content
  • Book
  • © 2017

JIMD Reports, Volume 31

  • 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

Part of the book series: JIMD Reports (JIMD, volume 31)

Buy it now

Buying options

eBook USD 39.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 54.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access

This is a preview of subscription content, log in via an institution to check for access.

Table of contents (16 chapters)

  1. Front Matter

    Pages i-vi
  2. Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents

    • Nina A. Zeltner, Markus A. Landolt, Matthias R. Baumgartner, Sarah Lageder, Julia Quitmann, Rachel Sommer et al.
    Pages 1-9
  3. Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders

    • Jyotsna Verma, Divya C. Thomas, David C. Kasper, Sandeepika Sharma, Ratna D. Puri, Sunita Bijarnia-Mahay et al.
    Pages 15-27
  4. Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper Spots

    • Gabriella Jacomelli, Vanna Micheli, Giulia Bernardini, Lia Millucci, Annalisa Santucci
    Pages 51-56
  5. Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes

    • Natascia Anastasio, Maja Tarailo-Graovac, Reem Al-Khalifah, Laurent Legault, Britt Drogemoller, Colin J.D. Ross et al.
    Pages 57-62
  6. Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency

    • Irene De Biase, Krista S. Viau, Aiping Liu, Tatiana Yuzyuk, Lorenzo D. Botto, Marzia Pasquali et al.
    Pages 63-71
  7. Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report

    • Mari Mori, Lauren A. Bailey, Januario Estrada, Catherine W. Rehder, Jennifer S. Li, Joseph G. Rogers et al.
    Pages 79-83
  8. Chronic Diarrhea in l-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients

    • M. A. Spitz, M. A. Nguyen, S. Roche, B. Heron, M. Milh, P. de Lonlay et al.
    Pages 85-93
  9. Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency

    • Anne-Els van de Logt, Leo A. J. Kluijtmans, Marleen C. D. G. Huigen, Mirian C. H. Janssen
    Pages 95-99
  10. Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?

    • Ivo Barić, Sahin Erdol, Halil Saglam, Mila Lovrić, Robert BeluĹľić, Oliver Vugrek et al.
    Pages 101-106
  11. Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency

    • Irina Anselm, Morgan MacCuaig, Sanjay B. Prabhu, Gerard T. Berry
    Pages 107-111
  12. Erratum to: Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency

    • Irina Anselm, Morgan MacCuaig, Sanjay P. Prabhu, Gerard T. Berry
    Pages 113-113

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.

Editors and Affiliations

  • Tulane University Medical School , New Orleans, USA

    Eva Morava

  • Division of Metabolism and Children’s Research Centre, University Children's Hospital Zurich, Zurich, Switzerland

    Matthias Baumgartner

  • Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, USA

    Marc Patterson

  • Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, United Kingdom

    Shamima Rahman

  • Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  • Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany

    Verena Peters

Bibliographic Information

  • Book Title: JIMD Reports, Volume 31

  • Editors: Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters

  • Series Title: JIMD Reports

  • DOI: https://doi.org/10.1007/978-3-662-54119-7

  • Publisher: Springer Berlin, Heidelberg

  • eBook Packages: Biomedical and Life Sciences, Biomedical and Life Sciences (R0)

  • Copyright Information: SSIEM and Springer-Verlag Berlin Heidelberg 2017

  • Softcover ISBN: 978-3-662-54118-0Published: 16 January 2017

  • eBook ISBN: 978-3-662-54119-7Published: 05 January 2017

  • Series ISSN: 2192-8304

  • Series E-ISSN: 2192-8312

  • Edition Number: 1

  • Number of Pages: VI, 111

  • Number of Illustrations: 6 b/w illustrations, 14 illustrations in colour

  • Topics: Human Genetics, Metabolic Diseases, Pediatrics, Molecular Medicine

Buy it now

Buying options

eBook USD 39.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 54.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access