Skip to main content
SpringerLink
Log in
Book cover
  • Book
  • © 2019

JIMD Reports, Volume 44

Editors:

  1. Eva Morava

    1. Tulane University Medical School, New Orleans, USA

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

  2. Matthias Baumgartner

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

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

  3. Marc Patterson

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

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

  4. Shamima Rahman

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

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

  5. Johannes Zschocke

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

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

  6. Verena Peters

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

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

  • 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 44)

Sections

Buy it now

eBook USD 39.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 54.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access

This is a preview of subscription content, log in via an institution to check for access.

Table of contents (15 chapters)

  1. Front Matter

    Pages i-vi
    PDF

  2. A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy

    • Arcangela Iuso, Bader Alhaddad, Corina Weigel, Urania Kotzaeridou, Elisa Mastantuono, Thomas Schwarzmayr et al.
    Pages 1-7

  3. Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency

    • Jasmine Lee-Barber, Taylor E. English, Jacquelyn F. Britton, Nara Sobreira, Jason Goldstein, David Valle et al.
    Pages 9-15

  4. Sialuria: Ninth Patient Described Has a Novel Mutation in GNE

    • Noelia Nunez Martinez, Michelle Lipke, Jacqueline Robinson, Bridget Wilcken
    Pages 17-21

  5. Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked Adrenoleukodystrophy

    • Masashi Morita, Shun Matsumoto, Airi Sato, Kengo Inoue, Dzmitry G. Kostsin, Kozue Yamazaki et al.
    Pages 23-31

  6. Psychosocial Functioning in Parents of MPS III Patients

    • Thirsa Conijn, Stephanie C. M. Nijmeijer, Hedy A. van Oers, Frits A. Wijburg, Lotte Haverman
    Pages 33-41

  7. The Second Case of Saposin A Deficiency and Altered Autophagy

    • Melis Kose, Secil Akyildiz Demir, Gulcin Akinci, Cenk Eraslan, Unsal Yilmaz, Serdar Ceylaner et al.
    Pages 43-54

  8. An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study

    • D. Marques-da-Silva, R. Francisco, V. dos Reis Ferreira, L. Forbat, R. Lagoa, P. A. Videira et al.
    Pages 55-64

  9. Acute Hepatic Porphyrias in Colombia: An Analysis of 101 Patients

    • Daniel A. Jaramillo-Calle, Daniel C. Aguirre Acevedo
    Pages 65-72

  10. Cobalamin D Deficiency Identified Through Newborn Screening

    • Aya Abu-El-Haija, Bryce A. Mendelsohn, Jacque L. Duncan, Anthony T. Moore, Orit A. Glenn, Kara Weisiger et al.
    Pages 73-77

  11. Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties

    • R. Anderson, S. Rust, J. Ashworth, J. Clayton-Smith, R. L. Taylor, P. T. Clayton et al.
    Pages 79-84

  12. DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients

    • Bobby G. Ng, Hunter R. Underhill, Lars Palm, Per Bengtson, Jean-Michel Rozet, Sylvie Gerber et al.
    Pages 85-92

  13. Enzyme Replacement Therapy During Pregnancy in Fabry Patients

    • Christoffer V. Madsen, Erik Ilsø Christensen, Rikke Nielsen, Helle Mogensen, Åse K. Rasmussen, Ulla Feldt-Rasmussen
    Pages 93-101

  14. Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia

    • Katherine Taylor Wild, Rebecca D. Ganetzky, Marc Yudkoff, Lynne Ierardi-Curto
    Pages 103-107

  15. Screening for Niemann-Pick Type C Disease in a Memory Clinic Cohort

    • Andreas Traschütz, Michael Thomas Heneka
    Pages 109-114

  16. Reversible Cerebral White Matter Abnormalities in Homocystinuria

    • Naila Ismayilova, Andrew D. MacKinnon, Helen Mundy, Penny Fallon
    Pages 115-119
Back to top

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.
Back to top

Keywords

Back to top

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

Back to top

Bibliographic Information

  • Book Title: JIMD Reports, Volume 44

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

  • Series Title: JIMD Reports

  • DOI: https://doi.org/10.1007/978-3-662-58617-4

  • 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) 2019

  • Softcover ISBN: 978-3-662-58616-7Published: 15 January 2019

  • eBook ISBN: 978-3-662-58617-4Published: 07 January 2019

  • Series ISSN: 2192-8304

  • Series E-ISSN: 2192-8312

  • Edition Number: 1

  • Number of Pages: VI, 119

  • Number of Illustrations: 10 b/w illustrations, 22 illustrations in colour

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

Back to top

Publish with us

Policies and ethics

Back to top
Access via your institution

Buy it now

eBook USD 39.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 54.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access

Search

Navigation