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JIMD Reports, Volume 25

  • Book
  • © 2016

Overview

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 Re, University Children's Hospital Zurich, Zurich, Switzerland

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  3. Marc Patterson

    1. Division of Child and Adolescent Neurolo, 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

Part of the book series: JIMD Reports (JIMD, volume 25)

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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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Table of contents (15 chapters)

  1. Front Matter

    Pages i-vi
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  2. Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III

    • Dèlia Yubero, Raquel Montero, Mar O’Callaghan, Mercè Pineda, Silvia Meavilla, Veronica Delgadillo et al.
    Pages 1-7

  3. Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion

    • Imre F. Schene, Viera Kalinina Ayuso, Monique de Sain-van der Velden, Koen L. I. van Gassen, Inge Cuppen, Peter M. van Hasselt et al.
    Pages 9-13

  4. New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria

    • Ashlee R. Stiles, Leah Venturoni, Grace Mucci, Naser Elbalalesy, Michael Woontner, Stephen Goodman et al.
    Pages 15-19

  5. Screening Mucopolysaccharidosis Type IX in Patients with Juvenile Idiopathic Arthritis

    • Ertugrul Kiykim, Kenan Barut, Mehmet Serif Cansever, Cigdem Aktuglu Zeybek, Tanyel Zubarioglu, Ahmet Aydin et al.
    Pages 21-24

  6. The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease

    • Mahdi Amiri, Eva-Maria Kuech, Hadeel Shammas, Gabi Wetzel, Hassan Y. Naim
    Pages 25-29

  7. Improvement of Diffusion Tensor Imaging (DTI) Parameters with Decoppering Treatment in Wilson’s Disease

    • A. Lawrence, J. Saini, S. Sinha, S. Rao, M. Naggappa, P. S. Bindu et al.
    Pages 31-37

  8. Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib

    • Daniela Melis, Giorgia Minopoli, Francesca Balivo, Paola Marcolongo, Rossella Parini, Sabrina Paci et al.
    Pages 39-45

  9. Urine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPI

    • Mari Kärki, Kirsti Näntö-Salonen, Harri Niinikoski, Laura M. Tanner
    Pages 47-55

  10. The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings

    • Evangelia Dimitriou, Monica Cozar, Irene Mavridou, Daniel Grinberg, Lluïsa Vilageliu, Helen Michelakakis
    Pages 57-64

  11. Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation

    • Jabin Rafiq, Morten Duno, Elsebet Østergaard, Kirstine Ravn, Christoffer R. Vissing, Flemming Wibrand et al.
    Pages 65-70

  12. PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?

    • D. Coman, P. Lewindon, P. Clayton, K. Riney
    Pages 71-75

  13. Liver Fibrosis Associated with Iron Accumulation Due to Long-Term Heme-Arginate Treatment in Acute Intermittent Porphyria: A Case Series

    • Barbara Willandt, Janneke G. Langendonk, Katharina Biermann, Wouter Meersseman, François D’Heygere, Christophe George et al.
    Pages 77-81

  14. GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings

    • Deborah Renaud, Michael Brodsky
    Pages 83-86

  15. Successful Domino Liver Transplantation from a Patient with Methylmalonic Acidemia

    • A. Khanna, R. Gish, S. C. Winter, W. L. Nyhan, B. A. Barshop
    Pages 87-94

  16. Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry Disease

    • Ozlem Goker-Alpan, Michael J. Gambello, Gustavo H. B. Maegawa, Khan J. Nedd, Daniel J. Gruskin, Larry Blankstein et al.
    Pages 95-106
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Editors and Affiliations

  • Tulane University Medical School , New Orleans, USA

    Eva Morava

  • Division of Metabolism and Children’s Re, University Children's Hospital Zurich, Zurich, Switzerland

    Matthias Baumgartner

  • Division of Child and Adolescent Neurolo, 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

Bibliographic Information

  • Book Title: JIMD Reports, Volume 25

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

  • Series Title: JIMD Reports

  • DOI: https://doi.org/10.1007/978-3-662-49668-8

  • 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: 978-3-662-49667-1Published: 11 April 2016

  • eBook ISBN: 978-3-662-49668-8Published: 02 April 2016

  • Series ISSN: 2192-8304

  • Series E-ISSN: 2192-8312

  • Edition Number: 1

  • Number of Pages: VI, 106

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

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