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  • Book
  • © 2016

JIMD Reports, Volume 30

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

Part of the book series: JIMD Reports (JIMD, volume 30)

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Table of contents (16 chapters)

  1. Front Matter

    Pages i-vi
    PDF

  3. Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux–Lamy Syndrome

    • M. Pineda, M. O’Callaghan, A. Fernandez Lopez, M. J. Coll, R. Ullot, G. Garcia-Fructuoso
    Pages 7-14

  4. A New Approach for Fast Metabolic Diagnostics in CMAMMA

    • Monique G. M. de Sain-van der Velden, Maria van der Ham, Judith J. Jans, Gepke Visser, Hubertus C. M. T. Prinsen, Nanda M. Verhoeven-Duif et al.
    Pages 15-22

  5. Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum

    • P. Ruiz Sala, G. Ruijter, C. Acquaviva, A. Chabli, M. G. M. de Sain-van der Velden, J. Garcia-Villoria et al.
    Pages 23-31

  6. ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis

    • Rebecca D. Ganetzky, Kaitlyn Bloom, Rebecca Ahrens-Nicklas, Andrew Edmondson, Matthew A. Deardorff, Michael J. Bennett et al.
    Pages 33-37

  7. Chronic Oral l-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions

    • Marcus J. Miller, Bret L. Bostwick, Adam D. Kennedy, Taraka R. Donti, Qin Sun, V. Reid Sutton et al.
    Pages 39-44

  8. A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria

    • Berardino Porfirio, Roberta Sestini, Greta Gorelli, Miriam Cordovana, Alessandro Mannoni, Jeanette L. Usher et al.
    Pages 45-52

  9. Rapid Desensitization for Immediate Hypersensitivity to Galsulfase Therapy in Patients with MPS VI

    • Zeynep Tamay, Gulden Gokcay, Fatih Dilek, Mehmet Cihan Balci, Deniz Ozceker, Mubeccel Demirkol et al.
    Pages 53-57

  11. Identification of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions

    • Takashi Higuchi, Masahisa Kobayashi, Jin Ogata, Eiko Kaneshiro, Yohta Shimada, Hiroshi Kobayashi et al.
    Pages 63-72

  12. Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency

    • Amanda Smith, Skye McBride, Julien L. Marcadier, Jean Michaud, Osama Y. Al-Dirbashi, Jeremy Schwartzentruber et al.
    Pages 73-79

  13. Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency

    • John M. Schreiber, Phillip L. Pearl, Irene Dustin, Edythe Wiggs, Emily Barrios, Eric M. Wassermann et al.
    Pages 81-87

  14. A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV

    • Haiqing Yi, Quan Zhang, Chunyu Yang, Priya S. Kishnani, Baodong Sun
    Pages 89-94

  16. Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures

    • Heather M. Byers, Robin L. Bennett, Emily A. Malouf, Michael D. Weiss, Jie Feng, C. Ronald Scott et al.
    Pages 103-108

  17. Erratum to: Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures

    • Heather M. Byers, Robin L. Bennett, Emily A. Malouf, Michael D. Weiss, Jie Feng, C. Ronald Scott et al.
    Pages 109-109
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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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Bibliographic Information

  • Book Title: JIMD Reports, Volume 30

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

  • Series Title: JIMD Reports

  • DOI: https://doi.org/10.1007/978-3-662-53681-0

  • Publisher: Springer Berlin, Heidelberg

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

  • Copyright Information: SSIEM and Springer-Verlag Berlin Heidelberg 2016

  • Softcover ISBN: 978-3-662-53680-3Published: 14 November 2016

  • eBook ISBN: 978-3-662-53681-0Published: 01 November 2016

  • Series ISSN: 2192-8304

  • Series E-ISSN: 2192-8312

  • Edition Number: 1

  • Number of Pages: VI, 108

  • Number of Illustrations: 7 b/w illustrations, 13 illustrations in colour

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

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Access via your institution

Buy it now

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

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