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JIMD Reports, Volume 41

Focus Issue: Adults and Metabolism

  • Book
  • © 2018

Overview

Editors:
  1. Eva Morava

    1. Tulane University Medical School, New Orleans, USA

  2. Matthias Baumgartner

    1. Division of Metabolism & Children’s Research Centre, University Children’s Hospital Zürich, Zürich, Switzerland

  3. Marc Patterson

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

  4. Shamima Rahman

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

  5. Johannes Zschocke

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

  6. Verena Peters

    1. Center for Child and Adolescent Medicine, Heidelberg University Hospital, 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 41)

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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 (16 chapters)

  1. Front Matter

    Pages i-vi
    Download chapter PDF

  2. Assessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excretion in Patients with Alkaptonuria After 4 Weeks of Treatment

    • A. S. Davison, B. Norman, A. M. Milan, A. T. Hughes, M. Khedr, J. Rovensky et al.
    Pages 1-10

  3. Severe Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ramadan Fasting Month in a Patient with CPTII Homozygous Mutation

    • P. Phowthongkum, C. Ittiwut, V. Shotelersuk
    Pages 11-16

  4. Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease

    • Karolina M. Stepien, Su Han Lum, J. Edmond Wraith, Christian J. Hendriksz, Heather J. Church, David Priestman et al.
    Pages 17-23

  5. Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an Example

    • Adam C. Cotton, R. B. Bell, H. A. Jinnah
    Pages 25-27

  6. Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1

    • Karolina M. Stepien, Gregory M. Pastores, Una Hendroff, Ciara McCormick, Patricia Fitzimons, Naveed Khawaja et al.
    Pages 29-36

  7. The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients

    • Alexandra Ivleva, Ekaterina Weith, Atul Mehta, Derralynn A. Hughes
    Pages 37-45

  8. Probable Diagnosis of a Patient with Niemann–Pick Disease Type C: Managing Pitfalls of Exome Sequencing

    • William A. Zeiger, Nasheed I. Jamal, Maren T. Scheuner, Patricia Pittman, Kimiyo M. Raymond, Massimo Morra et al.
    Pages 47-51

  9. Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent Features

    • Bryony Langford, Megan Besford, Aimée Hall, Lucy Eddowes, Oliver Timmis, James A. Gallagher et al.
    Pages 53-62

  10. Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study

    • Adam J. Bittel, Kathryn L. Bohnert, Dominic N. Reeds, Linda R. Peterson, Lisa de las Fuentes, Manuela Corti et al.
    Pages 63-72

  11. Cognitive Impairments and Subjective Cognitive Complaints in Fabry Disease: A Nationwide Study and Review of the Literature

    • Josefine Loeb, Ulla Feldt-Rasmussen, Christoffer Valdorff Madsen, Asmus Vogel
    Pages 73-80

  12. Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series

    • A. Selvanathan, C. Ellaway, C. Wilson, P. Owens, P. J. Shaw, K. Bhattacharya
    Pages 81-89

  13. Parenting a Child with Phenylketonuria: An Investigation into the Factors That Contribute to Parental Distress

    • Olivia Ambler, Emma Medford, Dougal J. Hare
    Pages 91-100

  14. P-Tau and Subunit c Mitochondrial ATP Synthase Accumulation in the Central Nervous System of a Woman with Hurler–Scheie Syndrome Treated with Enzyme Replacement Therapy for 12 Years

    • Hiroshi Kobayashi, Masamichi Ariga, Yohei Sato, Masako Fujiwara, Nei Fukasawa, Takahiro Fukuda et al.
    Pages 101-107

  15. Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone

    • A. S. Davison, B. P. Norman, E. A. Smith, J. Devine, J. Usher, A. T. Hughes et al.
    Pages 109-117

  16. Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients

    • Gerald F. Cox, Lorne A. Clarke, Roberto Giugliani, Margaret M. McGovern
    Pages 119-129

  17. Correction to: Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study

    • Adam J. Bittel, Kathryn L. Bohnert, Dominic N. Reeds, Linda R. Peterson, Lisa de las Fuentes, Manuela Corti et al.
    Pages C1-C1
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Editors and Affiliations

  • Tulane University Medical School, New Orleans, USA

    Eva Morava

  • Division of Metabolism & Children’s Research Centre, University Children’s Hospital Zürich, Zürich, 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, UK

    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

Accessibility Information

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Bibliographic Information

  • Book Title: JIMD Reports, Volume 41

  • Book Subtitle: Focus Issue: Adults and Metabolism

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

  • Series Title: JIMD Reports

  • DOI: https://doi.org/10.1007/978-3-662-58081-3

  • 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) 2018

  • Softcover ISBN: 978-3-662-58080-6Published: 14 September 2018

  • eBook ISBN: 978-3-662-58081-3Published: 31 August 2018

  • Series ISSN: 2192-8304

  • Series E-ISSN: 2192-8312

  • Edition Number: 1

  • Number of Pages: VI, 131

  • Number of Illustrations: 9 b/w illustrations, 13 illustrations in colour

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

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