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  • Book
  • © 2014

JIMD Reports Volume 16

Editors:

  1. Johannes Zschocke

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

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    You can also search for this editor in PubMed   Google Scholar

  2. K. Michael Gibson

    1. WSU Division of Health Sciences Clinical Pharmacology Unit, Spokane, USA

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    You can also search for this editor in PubMed   Google Scholar

  3. Garry Brown

    1. Department of Biochemistry Genetics Unit, University of Oxford, Oxford, United Kingdom

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    You can also search for this editor in PubMed   Google Scholar

  4. Eva Morava

    1. Department of Pediatrics IGMD, Tulane University Medical School Hayward Genetics Center, New Orleans, USA

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    You can also search for this editor in PubMed   Google Scholar

  5. Verena Peters

    1. Heidelberg University Hospital Centre for Child & Adolescent Med, Heidelberg, Germany

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    You can also search for this editor in PubMed   Google Scholar

  • 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 16)

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Table of contents (15 chapters)

  1. Front Matter

    Pages i-vi
    PDF

  2. Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect

    • Saskia B. Wortmann, Leo A. J. Kluijtmans, Silvia Sequeira, Ron A. Wevers, Eva Morava
    Pages 1-6

  3. Fabry Disease: Multidisciplinary Evaluation After 10 Years of Treatment with Agalsidase Beta

    • Politei Juan, Amartino Hernan, Schenone Andrea Beatriz, Cabrera Gustavo, Michref Antonio, Tanus Eduardo et al.
    Pages 7-14

  4. Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII

    • Tsutomu Shimada, Shunji Tomatsu, Eriko Yasuda, Robert W. Mason, William G. Mackenzie, Yuniko Shibata et al.
    Pages 15-24

  5. Carnitine Profile and Effect of Suppletion in Children with Renal Fanconi Syndrome due to Cystinosis

    • M. Besouw, E. Cornelissen, D. Cassiman, L. Kluijtmans, L. van den Heuvel, E. Levtchenko
    Pages 25-30

  6. Cognitive and Antipsychotic Medication Use in Monoallelic GBA-Related Parkinson Disease

    • M. J. Barrett, V. L. Shanker, W. L. Severt, D. Raymond, S. J. Gross, N. Schreiber-Agus et al.
    Pages 31-38

  7. Laronidase Replacement Therapy and Left Ventricular Function in Mucopolysaccharidosis I

    • Haruhito Harada, Hiroshi Niiyama, Atsushi Katoh, Hisao Ikeda
    Pages 39-45

  9. Reversal of Respiratory Failure in Both Neonatal and Late Onset Isolated Remethylation Disorders

    • A. Broomfield, L. Abulhoul, W. Pitt, E. Jameson, M. Cleary
    Pages 51-56

  10. Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP)

    • Sonya Dragneva, Monika Szyszka-Niagolov, Aneta Ivanova, Lyudmila Mateva, Rumiko Izumi, Yoko Aoki et al.
    Pages 57-64

  11. Analysis of Methylcitrate in Dried Blood Spots by Liquid Chromatography-Tandem Mass Spectrometry

    • Osama Y. Al-Dirbashi, Nathan McIntosh, Christine McRoberts, Larry Fisher, Mohamed S. Rashed, Nawal Makhseed et al.
    Pages 65-73

  12. The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations

    • Heidi S. Lumish, Yaping Yang, Fan Xia, Ashley Wilson, Wendy K. Chung
    Pages 75-79

  13. Isolated Mild Intellectual Disability Expands the Aminoacylase 1 Phenotype Spectrum

    • Maria G. Alessandrì, Manuela Casarano, Ilaria Pezzini, Stefano Doccini, Claudia Nesti, Giovanni Cioni et al.
    Pages 81-87

  14. Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia

    • Hugo Rocha, Daisy Castiñeiras, Carmen Delgado, José Egea, Raquel Yahyaoui, Yolanda González et al.
    Pages 89-94

  16. NMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish Neonates

    • Sitke Aygen, Ulrich Dürr, Peter Hegele, Johannes Kunig, Manfred Spraul, Hartmut Schäfer et al.
    Pages 101-111
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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

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

    Johannes Zschocke

  • WSU Division of Health Sciences Clinical Pharmacology Unit, Spokane, USA

    K. Michael Gibson

  • Department of Biochemistry Genetics Unit, University of Oxford, Oxford, United Kingdom

    Garry Brown

  • Department of Pediatrics IGMD, Tulane University Medical School Hayward Genetics Center, New Orleans, USA

    Eva Morava

  • Heidelberg University Hospital Centre for Child & Adolescent Med, Heidelberg, Germany

    Verena Peters

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Bibliographic Information

  • Book Title: JIMD Reports Volume 16

  • Editors: Johannes Zschocke, K. Michael Gibson, Garry Brown, Eva Morava, Verena Peters

  • Series Title: JIMD Reports

  • DOI: https://doi.org/10.1007/978-3-662-44587-7

  • Publisher: Springer Berlin, Heidelberg

  • eBook Packages: Medicine, Medicine (R0)

  • Copyright Information: SSIEM and Springer-Verlag Berlin Heidelberg 2014

  • Softcover ISBN: 978-3-662-44586-0Published: 19 November 2014

  • eBook ISBN: 978-3-662-44587-7Published: 05 November 2014

  • Series ISSN: 2192-8304

  • Series E-ISSN: 2192-8312

  • Edition Number: 1

  • Number of Pages: VI, 111

  • Number of Illustrations: 22 b/w illustrations, 12 illustrations in colour

  • Topics: Human Genetics, Metabolic Diseases, Pediatrics, Human Physiology

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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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