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  • Book
  • © 2017

JIMD Reports, Volume 32

Editors:

  1. Eva Morava

    1. Tulane University Medical School, New Orleans, USA

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  2. Matthias Baumgartner

    1. Division of Metabolism and Children’s Research Centre, University Children’s Hospital Zurich, Zurich, Switzerland

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  3. Marc Patterson

    1. Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, USA

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  4. Shamima Rahman

    1. Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK

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  5. Johannes Zschocke

    1. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

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  6. Verena Peters

    1. Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany

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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

Part of the book series: JIMD Reports (JIMD, volume 32)

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Table of contents (15 chapters)

  1. Front Matter

    Pages i-vi
    PDF

  2. Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme

    • E. A. Kemper, A. Boelen, A. M. Bosch, M. van Veen-Sijne, C. N. van Rijswijk, M. J. Bouva et al.
    Pages 1-6

  3. Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients

    • Shohreh Khatami, Soghra Rouhi Dehnabeh, Sirous Zeinali, Beat Thöny, Mohammadreza Alaei, Shadab Salehpour et al.
    Pages 7-14

  4. Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot Study

    • W. Todd Cade, Dominic N. Reeds, Linda R. Peterson, Kathryn L. Bohnert, Rachel A. Tinius, Paul B. Benni et al.
    Pages 15-24

  5. Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings

    • Annely Richardson, Gerard T. Berry, Cheryl Garganta, Mary-Alice Abbott
    Pages 25-32

  6. Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine Profiles

    • M. Rebecca Heiner-Fokkema, Frédéric M. Vaz, Ronald Maatman, Leo A. J. Kluijtmans, Francjan J. van Spronsen, Dirk-Jan Reijngoud
    Pages 33-39

  7. Relationships Between Childhood Experiences and Adulthood Outcomes in Women with PKU: A Qualitative Analysis

    • Rachel M. Roberts, Tamara Muller, Annabel Sweeney, Drago Bratkovic, Anne Gannoni, Brianna Morante
    Pages 41-49

  8. The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch–Nyhan Disease

    • Matthias Lauber, Barbara Plecko, Miriam Pfiffner, Jean-Marc Nuoffer, Johannes Häberle
    Pages 51-57

  10. A Multiplatform Metabolomics Approach to Characterize Plasma Levels of Phenylalanine and Tyrosine in Phenylketonuria

    • H. Blasco, C. Veyrat-Durebex, M. Bertrand, F. Patin, F. Labarthe, H. Henique et al.
    Pages 69-79

  11. Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression

    • Shohei Akagawa, Toshiyuki Fukao, Yuko Akagawa, Hideo Sasai, Urara Kohdera, Minoru Kino et al.
    Pages 81-85

  12. Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy

    • Jürgen G. Okun, Hongying Gan-Schreier, Tawfeq Ben-Omran, Kathrin V. Schmidt, Junmin Fang-Hoffmann, Gwendolyn Gramer et al.
    Pages 87-94

  13. Management of an LCHADD Patient During Pregnancy and High Intensity Exercise

    • D. C. D. van Eerd, I. A. Brussé, V. F. R. Adriaens, R. T. Mankowski, S. F. E. Praet, M. Michels et al.
    Pages 95-100

  14. Rare Case of Hepatic Gaucheroma in a Child on Enzyme Replacement Therapy

    • Sophy Korula, Penny Owens, Amanda Charlton, Kaustuv Bhattacharya
    Pages 101-104

  15. Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias

    • Friederike Hörster, Stefan Kölker, J. Gerard Loeber, Martina C. Cornel, Georg F. Hoffmann, Peter Burgard
    Pages 105-115
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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.
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Keywords

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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, UK

    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

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Bibliographic Information

  • Book Title: JIMD Reports, Volume 32

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

  • Series Title: JIMD Reports

  • DOI: https://doi.org/10.1007/978-3-662-54385-6

  • 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: 978-3-662-54384-9Published: 10 March 2017

  • eBook ISBN: 978-3-662-54385-6Published: 28 February 2017

  • Series ISSN: 2192-8304

  • Series E-ISSN: 2192-8312

  • Edition Number: 1

  • Number of Pages: VI, 124

  • Number of Illustrations: 15 b/w illustrations, 15 illustrations in colour

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

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Access via your institution

Buy it now

eBook USD 84.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 109.99
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

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