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JIMD Reports, Volume 18

  • Book
  • © 2015

Overview

Editors:
  1. Johannes Zschocke

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

  2. Matthias Baumgartner

    1. Division for Metabolic Diseases, University Children´s Hospital, Zürich, Switzerland

  3. Eva Morava

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

  4. Marc Patterson

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

  5. Shamima Rahman

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

  6. Verena Peters

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

  • 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 18)

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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
    Download chapter PDF

  2. Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux–Lamy Syndrome)

    • Adrian Quartel, Christian J. Hendriksz, Rossella Parini, Sue Graham, Ping Lin, Paul Harmatz
    Pages 1-11

  3. Treatment Adherence in Type 1 Hereditary Tyrosinaemia (HT1): A Mixed-Method Investigation into the Beliefs, Attitudes and Behaviour of Adolescent Patients, Their Families and Their Health-Care Team

    • Sumaira Malik, Sinead NiMhurchadha, Christina Jackson, Lina Eliasson, John Weinman, Sandrine Roche et al.
    Pages 13-22

  4. Regression of Hepatocellular Adenomas with Strict Dietary Therapy in Patients with Glycogen Storage Disease Type I

    • Richard D. Beegle, Laurie M. Brown, David A. Weinstein
    Pages 23-32

  5. Proteasome Inhibitor Bortezomib Enhances the Activity of Multiple Mutant Forms of Lysosomal α-Glucosidase in Pompe Disease

    • Yohta Shimada, Erica Nishimura, Hiroo Hoshina, Hiroshi Kobayashi, Takashi Higuchi, Yoshikatsu Eto et al.
    Pages 33-39

  6. Cognitive Function in Adults Aging with Fabry Disease: A Case–Control Feasibility Study Using Telephone-Based Assessments

    • Virginia G. Wadley, Leslie A. McClure, David G. Warnock, Caroline L. Lassen-Greene, Robert J. Hopkin, Dawn A. Laney et al.
    Pages 41-50

  7. Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease

    • Liam R. Brunham, Martin H. Kang, Clara Van Karnebeek, Singh N. Sadananda, Jennifer A. Collins, Lin-Hua Zhang et al.
    Pages 51-62

  8. Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III

    • Lindsey Welling, Jan Pieter Marchal, Peter van Hasselt, Ans T. van der Ploeg, Frits A. Wijburg, Jaap Jan Boelens
    Pages 63-68

  9. Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario

    • A. Ferrand, V. M. Siu, C. A. Rupar, M. P. Napier, O. Y. Al-Dirbashi, P. Chakraborty et al.
    Pages 69-77

  10. A Cause of Permanent Ketosis: GLUT-1 Deficiency

    • Alexis Chenouard, Sandrine Vuillaumier-Barrot, Nathalie Seta, Alice Kuster
    Pages 79-83

  11. Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation

    • M. J. Fraidakis, C. Liadinioti, L. Stefanis, A. Dinopoulos, R. Pons, M. Papathanassiou et al.
    Pages 85-92

  12. The Biological Clock and the Molecular Basis of Lysosomal Storage Diseases

    • Gianluigi Mazzoccoli, Tommaso Mazza, Manlio Vinciguerra, Stefano Castellana, Maurizio Scarpa
    Pages 93-105

  13. Severe Impairment of Regulatory T-Cells and Th1-Lymphocyte Polarization in Patients with Gaucher Disease

    • Christos Sotiropoulos, George Theodorou, Constantina Repa, Theodoros Marinakis, Eugenia Verigou, Elena Solomou et al.
    Pages 107-115

  14. Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?

    • Danique van Vliet, Esther van Dam, Margreet van Rijn, Terry G. J. Derks, Gineke Venema-Liefaard, Marrit M. Hitzert et al.
    Pages 117-124

  15. Neurodevelopmental Profiles of Children with Glutaric Aciduria Type I Diagnosed by Newborn Screening: A Follow-Up Case Series

    • Amy Brown, Louise Crowe, Miriam H. Beauchamp, Vicki Anderson, Avihu Boneh
    Pages 125-134

  16. Mild Lesch–Nyhan Disease in a Boy with a Null Mutation in HPRT1: An Exception to the Known Genotype–Phenotype Correlation

    • Allan Bayat, Mette Christensen, Flemming Wibrand, Morten Duno, Allan Lund
    Pages 135-137
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Editors and Affiliations

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

    Johannes Zschocke

  • Division for Metabolic Diseases, University Children´s Hospital, Zürich, Switzerland

    Matthias Baumgartner

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

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

    Verena Peters

Accessibility Information

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Bibliographic Information

  • Book Title: JIMD Reports, Volume 18

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

  • Series Title: JIMD Reports

  • DOI: https://doi.org/10.1007/978-3-662-44863-2

  • Publisher: Springer Berlin, Heidelberg

  • eBook Packages: Medicine, Medicine (R0)

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

  • Softcover ISBN: 978-3-662-44862-5Published: 30 March 2015

  • eBook ISBN: 978-3-662-44863-2Published: 16 March 2015

  • Series ISSN: 2192-8304

  • Series E-ISSN: 2192-8312

  • Edition Number: 1

  • Number of Pages: VI, 137

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

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

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