Skip to main content
SpringerLink
Log in
Book cover

JIMD Reports, Volume 35

  • Book
  • © 2017

Overview

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
  • Includes supplementary material: sn.pub/extras

Part of the book series: JIMD Reports (JIMD, volume 35)

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

Access this book

Log in via an institution
eBook USD 84.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 109.99
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

Licence this eBook for your library

Institutional subscriptions

Table of contents (17 chapters)

  1. Front Matter

    Pages i-vi
    Download chapter PDF

  2. Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability

    • Austin Larson, James D. Weisfeld-Adams, Tim A. Benke, Penelope E. Bonnen
    Pages 1-5

  3. Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants

    • Sarah U. Morton, Edward G. Neilan, Roy W. A. Peake, Jiahai Shi, Klaus Schmitz-Abe, Meghan Towne et al.
    Pages 7-15

  4. Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children’s Hospital

    • Nieves Martín-Begué, Silvia Alarcón, Charlotte Wolley-Dod, Luis Enrique Lara, Álvaro Madrid, Paola Cano et al.
    Pages 17-22

  5. Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch–Nyhan Disease: A Case Report and Review of the Literature

    • Alison Christy, William Nyhan, Jenny Wilson
    Pages 23-28

  6. Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient

    • E. Maines, G. Morandi, G. Gugelmo, F. Ion-Popa, N. Campostrini, A. Pasini et al.
    Pages 29-31

  7. Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine

    • Gerarda Cappuccio, Paldeep S. Atwal, Taraka R. Donti, Kiki Ugarte, Nadia Merchant, William J. Craigen et al.
    Pages 33-37

  8. Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?

    • Sema Kalkan Ucar, Johannes A. Mayr, René G. Feichtinger, Ebru Canda, Mahmut Çoker, Saskia B. Wortmann
    Pages 39-45

  9. Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience

    • Jayesh Sheth, Mehul Mistri, Krati Shah, Mayank Chaudhary, Koumudi Godbole, Frenny Sheth
    Pages 47-52

  10. The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening

    • Callum Wilson, Detlef Knoll, Mark de Hora, Campbell Kyle, Emma Glamuzina, Dianne Webster
    Pages 53-58

  11. Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency

    • Elsayed Abdelkreem, Radha Rama Devi Akella, Usha Dave, Sudhir Sane, Hiroki Otsuka, Hideo Sasai et al.
    Pages 59-65

  12. Atypical Presentation and Treatment Response in a Child with Familial Hypercholesterolemia Having a Novel LDLR Mutation

    • S. Varma, A. D. McIntyre, R. A. Hegele
    Pages 67-70

  13. Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts

    • Damien Bouvier, Christine Vianey-Saban, Séverine Ruet, Cécile Acquaviva
    Pages 71-78

  14. Analysis of Melanin-like Pigment Synthesized from Homogentisic Acid, with or without Tyrosine, and Its Implications in Alkaptonuria

    • Adam M. Taylor, Koen P. Vercruysse
    Pages 79-85

  15. Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis

    • Britt van Erven, Lindsey Welling, Sandra C. van Calcar, Artemis Doulgeraki, François Eyskens, Joanna Gribben et al.
    Pages 87-96

  16. Cognitive Development in a Young Child with Mucolipidosis Type IV: A Case Report

    • Evelyn L. Fisher, Rose A. Sevcik, MaryAnn Romski
    Pages 97-103

  17. White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother

    • Tokola Anna, Brandstack Nina, Hakkarainen Antti, Salli Eero, Åberg Laura, Autti Taina
    Pages 105-115

  18. Erratum to: White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother

    • Anna Tokola, Nina Brandstack, Antti Hakkarainen, Eero Salli, Laura Åberg, Taina Autti
    Pages 117-117
Back to top

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.

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

Bibliographic Information

  • Book Title: JIMD Reports, Volume 35

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

  • Series Title: JIMD Reports

  • DOI: https://doi.org/10.1007/978-3-662-55833-1

  • 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) 2017

  • Softcover ISBN: 978-3-662-55832-4Published: 20 September 2017

  • eBook ISBN: 978-3-662-55833-1Published: 04 September 2017

  • Series ISSN: 2192-8304

  • Series E-ISSN: 2192-8312

  • Edition Number: 1

  • Number of Pages: VI, 117

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

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

Publish with us

Policies and ethics

Back to top

Search

Navigation