Skip to main content
SpringerLink
Log in
Book cover
  • Book
  • © 2016

JIMD Reports, Volume 29

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 and Children’s Research Centre, University Children's Hospital Zurich, Zurich, 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, United Kingdom

    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 29)

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 (17 chapters)

  1. Front Matter

    Pages i-vi
    PDF

  3. Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance

    • C. Nicolas, N. Bednarek, V. Vuiblet, O. Boyer, A. Brassier, P. De Lonlay et al.
    Pages 11-17

  4. A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect

    • Jenny Bellerose, Mathilde Neugnot-Cerioli, Karine Bédard, Catherine Brunel-Guitton, Grant A. Mitchell, Luis H. Ospina et al.
    Pages 19-32

  5. Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis

    • Shanti Balasubramaniam, Barry Lewis, Lawrence Greed, David Meili, Annegret Flier, Raina Yamamoto et al.
    Pages 33-38

  6. Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia

    • Faiqa Imtiaz, Bashayer M. Al-Mubarak, Abeer Al-Mostafa, Mohamed Al-Hamed, Rabab Allam, Zuhair Al-Hassnan et al.
    Pages 39-46

  7. CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome

    • Emanuele Barca, Maoxue Tang, Giulio Kleiner, Kristin Engelstad, Salvatore DiMauro, Catarina M. Quinzii et al.
    Pages 47-52

  8. Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VI

    • Denise Rotta Ruttkay Pereira, Claudia Schweiger, Carolina F. de Souza, Simone Fagondes, Denise Manica, Roberto Giugliani et al.
    Pages 53-58

  9. Continual Low-Dose Infusion of Sulfamidase Is Superior to Intermittent High-Dose Delivery in Ameliorating Neuropathology in the MPS IIIA Mouse Brain

    • Helen Beard, Sofia Hassiotis, Amanda J. Luck, Tina Rozaklis, John J. Hopwood, Kim M. Hemsley
    Pages 59-68

  10. A Short Synthetic Peptide Mimetic of Apolipoprotein A1 Mediates Cholesterol and Globotriaosylceramide Efflux from Fabry Fibroblasts

    • Ulrike Schueler, Christine Kaneski, Alan Remaley, Stephen Demosky, Nancy Dwyer, Joan Blanchette-Mackie et al.
    Pages 69-75

  11. Development of Metabolic Phenotype in Phenylketonuria: Evaluation of the Blaskovics Protein Loading Test at 5 Years of Age

    • P. Burgard, E. Mönch, J. Zschocke, U. Wendel, U. Langenbeck, On behalf of the German Collaborative Study of Phenylketonuria (PKU)/Hyperphenylalaninaemia (HPA)
    Pages 77-84

  13. Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?

    • Charlotte Thiels, Martin Fleger, Martina Huemer, Richard J. Rodenburg, Frederic M. Vaz, Riekelt H. Houtkooper et al.
    Pages 89-93

  14. Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation

    • A. S. Kunin-Batson, E. G. Shapiro, K. D. Rudser, C. A. Lavery, K. J. Bjoraker, S. A. Jones et al.
    Pages 95-102

  16. Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants

    • Juliette Bouchereau, Sandrine Vuillaumier Barrot, Thierry Dupré, Stuart E. H. Moore, Ruxandra Cardas, Yline Capri et al.
    Pages 109-113
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 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, United Kingdom

    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 29

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

  • Series Title: JIMD Reports

  • DOI: https://doi.org/10.1007/978-3-662-53278-2

  • 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: 978-3-662-53277-5Published: 10 October 2016

  • eBook ISBN: 978-3-662-53278-2Published: 08 September 2016

  • Series ISSN: 2192-8304

  • Series E-ISSN: 2192-8312

  • Edition Number: 1

  • Number of Pages: VI, 113

  • Number of Illustrations: 20 b/w illustrations, 14 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