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  • Book
  • © 2017

JIMD Reports, Volume 36

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, United Kingdom

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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
  • Includes supplementary material: sn.pub/extras

Part of the book series: JIMD Reports (JIMD, volume 36)

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Table of contents (15 chapters)

  1. Front Matter

    Pages i-vi
    PDF

  2. False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency

    • Grace Stuhrman, Stefanie J. Perez Juanazo, Kea Crivelly, Jennifer Smith, Hans Andersson, Eva Morava
    Pages 1-5

  3. Domains of Daily Physical Activity in Children with Mitochondrial Disease: A 3D Accelerometry Approach

    • Saskia Koene, Ilse Dirks, Esmee van Mierlo, Pascal R. de Vries, Anjo J. W. M. Janssen, Jan A. M. Smeitink et al.
    Pages 7-17

  4. Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C

    • Alberto Benussi, Maria Sofia Cotelli, Maura Cosseddu, Valeria Bertasi, Marinella Turla, Ettore Salsano et al.
    Pages 19-27

  6. Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?

    • Jan Rasmussen, David M. Hougaard, Noreen Sandhu, Katrine Fjællegaard, Poula R. Petersen, Ulrike Steuerwald et al.
    Pages 35-40

  7. The Spectrum of Niemann-Pick Type C Disease in Greece

    • Irene Mavridou, Evangelia Dimitriou, Marie T. Vanier, Lluisa Vilageliu, Daniel Grinberg, Philippe Latour et al.
    Pages 41-48

  8. What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients?

    • Esther van Dam, Anne Daly, Gineke Venema-Liefaard, Margreet van Rijn, Terry G. J. Derks, Patrick J. McKiernan et al.
    Pages 49-57

  9. A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica

    • Tanya Lobo-Prada, Heinrich Sticht, Sixto Bogantes-Ledezma, Arif Ekici, Steffen Uebe, André Reis et al.
    Pages 59-66

  10. Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase Deficiency

    • Kathryn E. Coakley, Eric I. Felner, Vin Tangpricha, Peter W. F. Wilson, Rani H. Singh
    Pages 67-77

  11. Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1

    • Evelyn M. Wong, Anna Lehman, Philip Acott, Jane Gillis, Daniel L. Metzger, Sandra Sirrs
    Pages 79-84

  12. Widespread Expression of a Membrane-Tethered Version of the Soluble Lysosomal Enzyme Palmitoyl Protein Thioesterase-1

    • Charles Shyng, Shannon L. Macauley, Joshua T. Dearborn, Mark S. Sands
    Pages 85-92

  13. Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency

    • S. S. Johansen, X. Wang, D. Sejer Pedersen, P. L. Pearl, J.-B. Roullet, G. R. Ainslie et al.
    Pages 93-98

  14. An Audit of the Use of Gonadorelin Analogues to Prevent Recurrent Acute Symptoms in Patients with Acute Porphyria in the United Kingdom

    • Danja Schulenburg-Brand, Tricia Gardiner, Simon Guppy, David C. Rees, Penelope Stein, Julian Barth et al.
    Pages 99-107

  15. Altered Cellular Homeostasis in Murine MPS I Fibroblasts: Evidence of Cell-Specific Physiopathology

    • Gustavo Monteiro Viana, Cinthia Castro do Nascimento, Edgar Julian Paredes-Gamero, Vânia D’Almeida
    Pages 109-116
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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, 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

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About the editors


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Bibliographic Information

  • Book Title: JIMD Reports, Volume 36

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

  • Series Title: JIMD Reports

  • DOI: https://doi.org/10.1007/978-3-662-56138-6

  • Publisher: Springer Berlin, Heidelberg

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

  • Copyright Information: Society for the Study of Inborn Errors of Metabolism (SSIEM) 2017

  • Softcover ISBN: 978-3-662-56137-9Published: 20 November 2017

  • eBook ISBN: 978-3-662-56138-6Published: 08 November 2017

  • Series ISSN: 2192-8304

  • Series E-ISSN: 2192-8312

  • Edition Number: 1

  • Number of Pages: VI, 120

  • Number of Illustrations: 9 b/w illustrations, 11 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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