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JIMD Reports, Volume 28

  • Book
  • © 2016

Overview

Editors:
  1. Eva Morava

    1. Tulane University Medical School , New Orleans, USA

  2. Matthias Baumgartner

    1. Division of Metabolism and Children’s Research Centre, University Children's Hospital Zurich, Zurich, 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 28)

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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. Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency

    • Jennifer Lagoutte-Renosi, Isabelle SĂ©galas-Milazzo, Marie Crahes, Florian Renosi, Laurence Menu-Bouaouiche, StĂ©phanie Torre et al.
    Pages 1-10

  3. Novel Direct Assay for Acetyl-CoA:α-Glucosaminide N-Acetyltransferase Using BODIPY-Glucosamine as a Substrate

    • Yoo Choi, Alexander B. Tuzikov, Tatyana V. Ovchinnikova, Nicolai V. Bovin, Alexey V. Pshezhetsky
    Pages 11-18

  4. Electrical Changes in Resting, Exercise, and Holter Electrocardiography in Fabry Cardiomyopathy

    • Johannes Krämer, Peter Nordbeck, Stefan Störk, Christian Ritter, Georg Ertl, Christoph Wanner et al.
    Pages 19-28

  5. The Nutritional Intake of Patients with Organic Acidaemias on Enteral Tube Feeding: Can We Do Better?

    • Anne Daly, S. Evans, A. Gerrard, S. Santra, S. Vijay, A. MacDonald
    Pages 29-39

  6. Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease

    • Irene J. Hoogeveen, Rixt M. van der Ende, Francjan J. van Spronsen, Foekje de Boer, M. Rebecca Heiner-Fokkema, Terry G. J. Derks
    Pages 41-47

  7. LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure

    • Lisa G. Riley, JoĂ«lle Rudinger-Thirion, Klaus Schmitz-Abe, David R. Thorburn, Ryan L. Davis, Juliana Teo et al.
    Pages 49-57

  8. Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease

    • Divya Ajay, Erin R. McNamara, Stephanie Austin, John S. Wiener, Priya Kishnani
    Pages 59-67

  9. Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRS

    • Carlos R. Ferreira, Molly H. Silber, Taeun Chang, Jonathan G. Murnick, Brian Kirmse
    Pages 69-74

  10. Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency

    • A. Strandqvist, C. Bieneck Haglind, R. H. Zetterström, A. Nemeth, U. von Döbeln, M. Halldin Stenlid et al.
    Pages 75-84

  11. Enhancement by Uridine Diphosphate of Macrophage Inflammatory Protein-1 Alpha Production in Microglia Derived from Sandhoff Disease Model Mice

    • Eri Kawashita, Daisuke Tsuji, Yosuke Kanno, Kaho Tsuchida, Kohji Itoh
    Pages 85-93

  12. In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease

    • Linda van der Tol, Camiel Verhamme, Ivo N. van Schaik, Anneke J. van der Kooi, Carla E. M. Hollak, Marieke Biegstraaten
    Pages 95-103

  13. In Utero Diagnosis of Niemann–Pick Type C in the Absence of Family History

    • E. Colin, M. Barth, F. Boussion, P. Latour, G. Piguet-Lacroix, A. Guichet et al.
    Pages 105-110

  14. Multiple, Successful Pregnancies in Pompe Disease

    • Ursula Plöckinger, Nikolaus Tiling, Lenka Bosanska, Bettina Temmesfeld-Wollbrueck, Kerstin Irlbacher, Viktor Mezger et al.
    Pages 111-118

  15. Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans

    • Mara Doimo, Raffaele Lopreiato, Valentina Basso, Raissa Bortolotto, Alessandra Tessa, Filippo M. Santorelli et al.
    Pages 119-126

  16. Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011–2014)

    • Fatma A. Al-Jasmi, Aisha Al-Shamsi, Jozef L. Hertecant, Sania M. Al-Hamad, Abdul-Kader Souid
    Pages 127-135
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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, 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 28

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

  • Series Title: JIMD Reports

  • DOI: https://doi.org/10.1007/978-3-662-52847-1

  • 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: 978-3-662-52846-4Published: 15 July 2016

  • eBook ISBN: 978-3-662-52847-1Published: 05 July 2016

  • Series ISSN: 2192-8304

  • Series E-ISSN: 2192-8312

  • Edition Number: 1

  • Number of Pages: VI, 135

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

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