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  • Book
  • © 2017

JIMD Reports, Volume 33

Editors:

  1. Eva Morava

    1. Tulane University Medical School, New Orleans, USA

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  2. Matthias Baumgartner

    1. Division of Metabolism and Children’s Research Centre, University Children’s Hospital Zurich, Zurich, Switzerland

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  3. Marc Patterson

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

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  4. Shamima Rahman

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

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  5. Johannes Zschocke

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

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  6. 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
  • Includes supplementary material: sn.pub/extras

Part of the book series: JIMD Reports (JIMD, volume 33)

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Table of contents (16 chapters)

  1. Front Matter

    Pages i-vi
    PDF

  3. Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease

    • Gyani Swift, Maureen Cleary, Stephanie Grunewald, Sonia Lozano, Martina Ryan, James Davison
    Pages 11-17

  4. Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II

    • Camelia Alkhzouz, Cecilia Lazea, Simona Bucerzan, Ioana Nascu, Eva Kiss, Carmencita Lucia Denes et al.
    Pages 19-25

  5. Gastrointestinal Health in Classic Galactosemia

    • Kelly A. Shaw, Jennifer G. Mulle, Michael P. Epstein, Judith L. Fridovich-Keil
    Pages 27-32

  6. Management of Life-Threatening Tracheal Stenosis and Tracheomalacia in Patients with Mucopolysaccharidoses

    • Christoph Kampmann, Christiane M. Wiethoff, Ralf G. Huth, Gundula Staatz, Eugen Mengel, Michael Beck et al.
    Pages 33-39

  7. Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive Abilities in Children with Phenylketonuria

    • Anna Hood, Jerrel Rutlin, Joshua S. Shimony, Dorothy K. Grange, Desiree A. White
    Pages 41-47

  8. The Challenges of a Successful Pregnancy in a Patient with Adult Refsum’s Disease due to Phytanoyl-CoA Hydroxylase Deficiency

    • Karolina M. Stepien, Anthony S. Wierzbicki, Bwee T. Poll-The, Hans R. Waterham, Christian J. Hendriksz
    Pages 49-53

  9. Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency

    • Ronen Spiegel, Devorah Soiferman, Avraham Shaag, Stavit Shalev, Orly Elpeleg, Ann Saada
    Pages 55-60

  10. Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features

    • Renata Oliveira, Ewen W. Sommerville, Kyle Thompson, Joana Nunes, Angela Pyle, Manuela Grazina et al.
    Pages 61-68

  11. Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling

    • Sabine Grønborg, Niklas Darin, Maria J. Miranda, Bodil Damgaard, Jorge Asin Cayuela, Anders Oldfors et al.
    Pages 69-77

  12. Peak Jump Power Reflects the Degree of Ambulatory Ability in Patients with Mitochondrial and Other Rare Diseases

    • Christopher Newell, Barbara Ramage, Alberto Nettel-Aguirre, Ion Robu, Aneal Khan
    Pages 79-86

  13. RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?

    • Tessa van Dijk, Fred van Ruissen, Bregje Jaeger, Richard J. Rodenburg, Saskia Tamminga, Merel van Maarle et al.
    Pages 87-92

  14. Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency

    • Andrew C. Edmondson, Jennifer Salant, Lynne A. Ierardi-Curto, Can Ficicioglu
    Pages 93-97

  15. Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)

    • Shanti Balasubramaniam, B. Lewis, D. M. Mock, H. M. Said, M. Tarailo-Graovac, A. Mattman et al.
    Pages 99-107

  16. Erratum: Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency

    • Andrew C. Edmondson, Jennifer Salant, Lynne A. Ierardi-Curto, Can Ficicioglu
    Pages 109-110
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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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Keywords

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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

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Bibliographic Information

  • Book Title: JIMD Reports, Volume 33

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

  • Series Title: JIMD Reports

  • DOI: https://doi.org/10.1007/978-3-662-55012-0

  • Publisher: Springer Berlin, Heidelberg

  • eBook Packages: Biomedical and Life Sciences, Biomedical and Life Sciences (R0)

  • Copyright Information: SSIEM and Springer-Verlag Berlin Heidelberg 2017

  • Softcover ISBN: 978-3-662-55011-3Published: 12 May 2017

  • eBook ISBN: 978-3-662-55012-0Published: 02 May 2017

  • Series ISSN: 2192-8304

  • Series E-ISSN: 2192-8312

  • Edition Number: 1

  • Number of Pages: VI, 110

  • Number of Illustrations: 26 b/w illustrations

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

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Access via your institution

Buy it now

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

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