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JIMD Reports, Volume 22

  • Book
  • © 2015

Overview

Editors:
  1. Johannes Zschocke

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

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  2. Matthias Baumgartner

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

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  3. Eva Morava

    1. Tulane University Medical School, New Orleans, USA

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  4. Marc Patterson

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

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  5. Shamima Rahman

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

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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 22)

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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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Table of contents (15 chapters)

  1. Front Matter

    Pages i-vi
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  2. Innate and Adaptive Immune Response in Fabry Disease

    • Wladimir Mauhin, Olivier Lidove, Elisa Masat, Federico Mingozzi, Kuberaka Mariampillai, Jean-Marc Ziza et al.
    Pages 1-10

  3. Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism

    • Majid Alfadhel, Muhammad Talal Alrifai, Daniel Trujillano, Hesham Alshaalan, Ali Al Othaim, Shatha Al Rasheed et al.
    Pages 11-16

  4. Occurrence of Malignant Tumours in the Acute Hepatic Porphyrias

    • Estefanía Lang, Martin Schäfer, Holger Schwender, Norbert J. Neumann, Jorge Frank
    Pages 17-22

  5. Improvement in Bone Mineral Density and Architecture in a Patient with Gaucher Disease Using Teriparatide

    • Aneal Khan, David A. Hanley, Colleen McNeil, Steven Boyd
    Pages 23-28

  6. Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium

    • Stefan Kölker, Dries Dobbelaere, Johannes Häberle, Peter Burgard, Florian Gleich, Marshall L. Summar et al.
    Pages 29-38

  7. Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy

    • I. M. L. W. Körver-Keularts, M. de Visser, H. D. Bakker, R. J. A. Wanders, F. Vansenne, H. R. Scholte et al.
    Pages 39-45

  8. Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under l-DOPA, 5-HTP and BH4 Trials

    • Michel Mazzuca, Marie-Anne Maubert, Léna Damaj, Fabienne Clot, Marylène Cadoudal, Christele Dubourg et al.
    Pages 47-55

  9. Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms

    • Joanne T. Marsden, Simon Guppy, Penelope Stein, Timothy M. Cox, Michael Badminton, Tricia Gardiner et al.
    Pages 57-65

  10. Normal Cerebrospinal Fluid Pyridoxal 5′-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy

    • Alina Levtova, Stephane Camuzeaux, Anne-Marie Laberge, Pierre Allard, Catherine Brunel-Guitton, Paola Diadori et al.
    Pages 67-75

  11. Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X-Linked Adrenoleukodystrophy

    • Johann Hofereiter, Matthew D. Smith, Jai Seth, Katarina Ivana Tudor, Zoe Fox, Anton Emmanuel et al.
    Pages 77-83

  12. Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia

    • Masa-aki Kawashiri, Hayato Tada, Marowa Hashimoto, Matsuo Taniyama, Takamitsu Nakano, Katsuyuki Nakajima et al.
    Pages 85-94

  13. Girls with Seizures Due to the c.320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard Testing

    • Bethanny Smith-Packard, Scott M. Myers, Marc S. Williams
    Pages 95-98

  14. Monitoring of Therapy for Mucopolysaccharidosis Type I Using Dysmorphometric Facial Phenotypic Signatures

    • Stefanie Kung, Mark Walters, Peter Claes, Peter LeSouef, Jack Goldblatt, Andrew Martin et al.
    Pages 99-106

  15. Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS)

    • Hao-Chuan Liu, Amandine Perrin, Ting-Rong Hsu, Chia-Feng Yang, Hsiang-Yu Lin, Wen-Chung Yu et al.
    Pages 107-113

  16. Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature

    • Anna Ardissone, Tiziana Granata, Andrea Legati, Daria Diodato, Laura Melchionda, Eleonora Lamantea et al.
    Pages 115-120
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Editors and Affiliations

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

    Johannes Zschocke

  • Division of Metabolism and Children’s Re, University Children’s Hospital Zurich, Zurich, Switzerland

    Matthias Baumgartner

  • Tulane University Medical School, New Orleans, USA

    Eva Morava

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

    Marc Patterson

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

    Shamima Rahman

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

    Verena Peters

Bibliographic Information

  • Book Title: JIMD Reports, Volume 22

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

  • Series Title: JIMD Reports

  • DOI: https://doi.org/10.1007/978-3-662-47453-2

  • Publisher: Springer Berlin, Heidelberg

  • eBook Packages: Medicine, Medicine (R0)

  • Copyright Information: SSIEM and Springer-Verlag Berlin Heidelberg 2015

  • Softcover ISBN: 978-3-662-47452-5Published: 10 July 2015

  • eBook ISBN: 978-3-662-47453-2Published: 30 June 2015

  • Series ISSN: 2192-8304

  • Series E-ISSN: 2192-8312

  • Edition Number: 1

  • Number of Pages: VI, 120

  • Number of Illustrations: 18 b/w illustrations, 17 illustrations in colour

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

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