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JIMD Reports - Case and Research Reports, Volume 13

  • Book
  • © 2014

Overview

Editors:
  1. Johannes Zschocke

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

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  2. K. Michael Gibson

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

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  3. Garry Brown

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

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  4. Eva Morava

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

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  5. 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 13)

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Table of contents (20 chapters)

  1. Front Matter

    Pages i-vi
    Download chapter PDF

  2. Newborn Screening for Glutaric Aciduria-II: The New England Experience

    • I. Sahai, C. L. Garganta, J. Bailey, P. James, H. L. Levy, M. Martin et al.
    Pages 1-14

  3. Systematic Data Collection to Inform Policy Decisions: Integration of the Region 4 Stork (R4S) Collaborative Newborn Screening Database to Improve MS/MS Newborn Screening in Washington State

    • Ashleigh Fleischman, John D. Thompson, Mike Glass
    Pages 15-21

  4. Application of a Second-Tier Newborn Screening Assay for C5 Isoforms

    • T Cloppenborg, N Janzen, HJ Wagner, U Steuerwald, M Peter, AM Das
    Pages 23-26

  5. Cystinosis with Sclerotic Bone Lesions

    • S. Sirrs, P. Munk, P. I. Mallinson, H. Ouellette, G. Horvath, S. Cooper et al.
    Pages 27-31

  6. Pregnancy and Lactation Outcomes in a Turkish Patient with Lysinuric Protein Intolerance

    • Özlem Ünal, Turgay Coşkun, Diclehan Orhan, Ayşegül Tokatl, Ali Dursun, Burcu Hişmi et al.
    Pages 33-36

  7. Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation

    • Bryce A. Mendelsohn, Neil Mehta, Bilal Hameed, Melike Pekmezci, Seymour Packman, Jeffrey Ralph
    Pages 37-41

  8. Multiple Acyl-CoA Dehydrogenation Deficiency (Glutaric Aciduria Type II) with a Novel Mutation of Electron Transfer Flavoprotein-Dehydrogenase in a Cat

    • Shoichi Wakitani, Shidow Torisu, Taiki Yoshino, Kazuhisa Hattanda, Osamu Yamato, Ryuji Tasaki et al.
    Pages 43-51

  9. Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome

    • Felix Distelmaier, Peter Huppke, Peter Pieperhoff, Katrin Amunts, Jörg Schaper, Eva Morava et al.
    Pages 53-57

  10. Severe Hypertriglyceridemia in a Newborn with Monogenic Lipoprotein Lipase Deficiency: An Unconventional Therapeutic Approach with Exchange Transfusion

    • Lorenza Pugni, Enrica Riva, Carlo Pietrasanta, Claudio Rabacchi, Stefano Bertolini, Cristina Pederiva et al.
    Pages 59-64

  11. Liver Engraftment and Repopulation by In Vitro Expanded Adult Derived Human Liver Stem Cells in a Child with Ornithine Carbamoyltransferase Deficiency

    • Etienne M Sokal, Xavier Stéphenne, Chris Ottolenghi, Nawal Jazouli, Philippe Clapuyt, Florence Lacaille et al.
    Pages 65-72

  12. Distribution and Severity of Neuropathology in β-Mannosidase-Deficient Mice is Strain Dependent

    • Kathryn L. Lovell, Mei Zhu, Meghan C. Drummond, Robert C. Switzer III, Karen H. Friderici
    Pages 73-81

  13. High Dietary Folic Acid and High Plasma Folate in Children and Adults with Phenylketonuria

    • Linn Helene Stølen, Rina Lilje, Jens Veilemand Jørgensen, Yngve Thomas Bliksrud, Runar Almaas
    Pages 83-90

  14. A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females

    • S. Dreha-Kulaczewski, V. Kalscheuer, A. Tzschach, H. Hu, G. Helms, K. Brockmann et al.
    Pages 91-99

  15. Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study

    • Sarah Leuders, Eva Wolfgart, Torsten Ott, Marcel du Moulin, Agnes van Teeffelen-Heithoff, Lydia Vogelpohl et al.
    Pages 101-109

  16. Vestibular and Saccadic Abnormalities in Gaucher’s Disease

    • Luke Chen, G. Michael Halmagyi, Michael J. Todd, Swee T. Aw
    Pages 111-118

  17. Evaluation of Physiological Amino Acids Profiling by Tandem Mass Spectrometry

    • Romain Filee, Roland Schoos, François Boemer
    Pages 119-128

  18. Methods of Neurodevelopmental Assessment in Children with Neurodegenerative Disease: Sanfilippo Syndrome

    • Kathleen A. Delaney, Kyle R. Rudser, Brianna D. Yund, Chester B. Whitley, Patrick A. J. Haslett, Elsa G. Shapiro
    Pages 129-137

  19. Aminoglycoside-Induced Premature Stop Codon Read-Through of Mucopolysaccharidosis Type I Patient Q70X and W402X Mutations in Cultured Cells

    • Makoto Kamei, Karissa Kasperski, Maria Fuller, Emma J. Parkinson-Lawrence, Litsa Karageorgos, Valery Belakhov et al.
    Pages 139-147

  20. Dietary Habits and Metabolic Control in Adolescents and Young Adults with Phenylketonuria: Self-Imposed Protein Restriction May Be Harmful

    • A. M. Das, K. Goedecke, U. Meyer, N. Kanzelmeyer, S. Koch, S. Illsinger et al.
    Pages 149-158
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Keywords

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.

Reviews

From the book reviews:

“Clearly this is a highly specialized publication. It should be of great use to metabolic disorders specialists to keep current in the area. In addition, it is a great educational tool for medical genetics residents and genetics counseling students. … There are very few journals that deal exclusively with metabolic disorders, so this represents a unique publication. It is well planned and informative.” (Luis F. Escobar, Doody’s Book Reviews, September, 2014)

Editors and Affiliations

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

    Johannes Zschocke

  • Clinical Pharmacology Unit, WSU Division of Health Sciences, 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 Center, New Orleans, USA

    Eva Morava

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

    Verena Peters

Bibliographic Information

  • Book Title: JIMD Reports - Case and Research Reports, Volume 13

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

  • Series Title: JIMD Reports

  • DOI: https://doi.org/10.1007/978-3-642-54149-0

  • Publisher: Springer Berlin, Heidelberg

  • eBook Packages: Medicine, Medicine (R0)

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

  • Softcover ISBN: 978-3-642-54148-3Published: 05 August 2014

  • eBook ISBN: 978-3-642-54149-0Published: 24 July 2014

  • Series ISSN: 2192-8304

  • Series E-ISSN: 2192-8312

  • Edition Number: 1

  • Number of Pages: VI, 167

  • Number of Illustrations: 25 b/w illustrations, 30 illustrations in colour

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

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