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  • Book
  • © 2013

JIMD Reports - Case and Research Reports, 2012/5

Editors:

  1. Johannes Zschocke

    1. Sektionen für Humangenetik und Klinische, Medizinische Universität Innsbruck, Innsbruck, Austria

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  2. K Michael Gibson

    1. , Biological Sciences, Michigan Technological University, Houghton, USA

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  3. Garry Brown

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

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  4. Eva Morava

    1. Medical Center, Department of Pediatrics, Radboud University Nijmegen, Nijmegen, Netherlands

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  5. Verena Peters

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

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    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 8)

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Table of contents (20 chapters)

  1. Front Matter

    Pages i-vii
    PDF

  2. The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic Activity

    • Cosima Rhein, Julia Naumann, Christiane Mühle, Peter Zill, Mazda Adli, Ulrich Hegerl et al.
    Pages 1-6

  4. A Pilot Study of the Effect of (E, E)-2, 4-Undecadienal on the Offensive Odour of Trimethylamine

    • Pankaj Garg, Kevin Carpenter, Shanley Chong, John Christodoulou
    Pages 11-15

  5. ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients

    • M. Dercksen, A. C. Crutchley, E. M. Honey, M. M. Lippert, G. Matthijs, L. J. Mienie et al.
    Pages 17-23

  7. A Dysmorphometric Analysis to Investigate Facial Phenotypic Signatures as a Foundation for Non-invasive Monitoring of Lysosomal Storage Disorders

    • Stefanie Kung, Mark Walters, Peter Claes, Jack Goldblatt, Peter Le Souef, Gareth Baynam
    Pages 31-39

  8. Orthotopic Liver Transplantation in an Adult with Cholesterol Ester Storage Disease

    • Graeme K Ambler, Matthew Hoare, Rebecca Brais, Ashley Shaw, Andrew Butler, Paul Flynn et al.
    Pages 41-46

  9. Inheritance of the m.3243A>G mutation

    • Paul de Laat, Saskia Koene, Lambert P. W. J. vd Heuvel, Richard J. T. Rodenburg, Mirian C. H. Janssen, Jan A. M. Smeitink
    Pages 47-50

  10. Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Following a Period of Shortage

    • Gabor E. Linthorst, Alessandro P. Burlina, Franco Cecchi, Timothy M. Cox, Janice M. Fletcher, Ulla Feldt-Rasmussen et al.
    Pages 51-56

  11. cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period

    • Daniel Palanca, Angels Garcia-Cazorla, Jessica Ortiz, Cristina Jou, Victoria Cusí, Mariona Suñol et al.
    Pages 57-62

  12. Mannose 6-Phosphate Conjugation Is Not Sufficient to Allow Induction of Immune Tolerance to Phenylalanine Ammonia-Lyase in Dogs

    • Moin Vera, Thomas Lester, Bin Zhao, Pascale Tiger, Scott Clarke, Brigette L. Tippin et al.
    Pages 63-72

  13. Association of Dopamine Receptor Gene Polymorphisms with the Clinical Course of Wilson Disease

    • T. Litwin, G. Gromadzka, J. Samochowiec, A. Grzywacz, A. Członkowski, A. Członkowska
    Pages 73-80Open Access

  14. Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

    • C. Bieneck Haglind, M. Halldin Stenlid, S. Ask, J. Alm, A. Nemeth, Uv. Döbeln et al.
    Pages 81-90Open Access

  15. Fabry Disease in Latin America: Data from the Fabry Registry

    • J. Villalobos, J. M. Politei, A. M. Martins, G. Cabrera, H. Amartino, R. Lemay et al.
    Pages 91-99Open Access

  16. Questioning the Pathogenic Role of the GLA p.Ala143Thr “Mutation” in Fabry Disease: Implications for Screening Studies and ERT

    • W. Terryn, R. Vanholder, D. Hemelsoet, B. P. Leroy, W. Van Biesen, G. De Schoenmakere et al.
    Pages 101-108Open Access

  17. A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria

    • Mary Lou Lindegren, Shanthi Krishnaswami, Tyler Reimschisel, Christopher Fonnesbeck, Nila A. Sathe, Melissa L. McPheeters
    Pages 109-119Open Access

  18. Neonatal Bone Marrow Transplantation in MPS IIIA Mice

    • Adeline A Lau, N. Jannah Shamsani, Leanne K. Winner, Sofia Hassiotis, Barbara M. King, John J. Hopwood et al.
    Pages 121-132Open Access

  19. Therapeutic Efficacy of Magnesium Valproate in Succinic Semialdehyde Dehydrogenase Deficiency

    • Elena Vanadia, K. Michael Gibson, Phillip L. Pearl, Emanuele Trapolino, Salvatore Mangano, Francesca Vanadia
    Pages 133-137Open Access

  20. Barriers to Transplantation in Adults with Inborn Errors of Metabolism

    • S. M. Sirrs, H. Faghfoury, E. M. Yoshida, T. Geberhiwot
    Pages 139-144Open Access
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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

  • Sektionen für Humangenetik und Klinische, Medizinische Universität Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  • , Biological Sciences, Michigan Technological University, Houghton, USA

    K Michael Gibson

  • , Department of Biochemistry, University of Oxford, Oxford, United Kingdom

    Garry Brown

  • Medical Center, Department of Pediatrics, Radboud University Nijmegen, Nijmegen, Netherlands

    Eva Morava

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

    Verena Peters

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Bibliographic Information

  • Book Title: JIMD Reports - Case and Research Reports, 2012/5

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

  • Series Title: JIMD Reports

  • DOI: https://doi.org/10.1007/978-3-642-33433-7

  • Publisher: Springer Berlin, Heidelberg

  • eBook Packages: Medicine, Medicine (R0)

  • Copyright Information: SSIEM and Springer-Verlag Berlin Heidelberg 2013

  • Softcover ISBN: 978-3-642-33432-0Published: 02 October 2012

  • eBook ISBN: 978-3-642-33433-7Published: 01 October 2012

  • Series ISSN: 2192-8304

  • Series E-ISSN: 2192-8312

  • Edition Number: 1

  • Number of Pages: VII, 152

  • Number of Illustrations: 19 b/w illustrations, 21 illustrations in colour

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

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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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