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JIMD Reports - Case and Research Reports, 2012/6

  • Book
  • © 2013

Overview

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 Genetics Unit, University of Oxford, Oxford, UK

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  4. Eva Morava

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

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  5. 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 9)

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Table of contents (22 chapters)

  1. Front Matter

    Pages i-vi
    Download chapter PDF

  2. Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency

    • Elsebet Ostergaard, Morten Duno, Lisbeth Birk Møller, H. Serap Kalkanoglu-Sivri, Ali Dursun, Didem Aliefendioglu et al.
    Pages 1-5

  3. Novel Mutations in the Glucocerebrosidase Gene of Brazilian Patients with Gaucher Disease

    • Marina Siebert, Hugo Bock, Kristiane Michelin-Tirelli, Janice C. Coelho, Roberto Giugliani, Maria Luiza Saraiva-Pereira
    Pages 7-16

  4. Prevalence and Development of Orthopaedic Symptoms in the Dutch Hurler Patient Population after Haematopoietic Stem Cell Transplantation

    • F. J. Stoop, M. C. Kruyt, M. H. van der Linden, R. J. B. Sakkers, P. M. van Hasselt, R. M. C. Castelein
    Pages 17-29

  5. Nutritional Changes and Micronutrient Supply in Patients with Phenylketonuria Under Therapy with Tetrahydrobiopterin (BH4)

    • A. G. Thiele, J. F. Weigel, B. Ziesch, C. Rohde, U. Mütze, U. Ceglarek et al.
    Pages 31-40

  6. Effects of Switching from Agalsidase Beta to Agalsidase Alfa in 10 Patients with Anderson-Fabry Disease

    • A. Pisani, L. Spinelli, B. Visciano, I. Capuano, M. Sabbatini, E. Riccio et al.
    Pages 41-48

  7. Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S

    • Maja Djordjevic, Kristel Klaassen, Adrijan Sarajlija, Natasa Tosic, Branka Zukic, Bozica Kecman et al.
    Pages 49-58

  8. Subjective and Objective Assessment of Hand Function in Mucopolysaccharidosis IVa Patients

    • Riffat Aslam, Annelotte C. M. van Bommel, Christian J. Hendriksz, Andrea Jester
    Pages 59-65

  9. Ceftriaxone for Alexander’s Disease: A Four-Year Follow-Up

    • GianPietro Sechi, Isabella Ceccherini, Tiziana Bachetti, Giovanni A. Deiana, Elia Sechi, Pietro Balbi
    Pages 67-71

  10. Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2

    • N. Ramanathan, M. Ahmed, E. Raffan, C. L. Stewart, S. O’Rahilly, R. K. Semple et al.
    Pages 73-80Open Access

  11. The Mild Form of Menkes Disease: A 34 Year Progress Report on the Original Case

    • M. C. Tchan, B. Wilcken, J. Christodoulou
    Pages 81-84

  12. Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 Gene

    • Talita E R Adelino, Gustavo G Martins, Aretta A A Gomes, Adriana A Torres, Daniel A S Silva, Vinícius D O Xavier et al.
    Pages 85-91

  13. A Young Adult with Sarcosinemia. No Benefit from Long Duration Treatment with Memantine

    • A. Benarrosh, R. Garnotel, A. Henry, C. Arndt, P. Gillery, J. Motte et al.
    Pages 93-96

  14. Amino Acid Profiles in Patients with Urea Cycle Disorders at Admission to Hospital due to Metabolic Decompensation

    • S. Rodney, A. Boneh
    Pages 97-104

  15. Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNASer(UCN) and Review of Published Cases

    • Katalin Komlósi, Anita Maász, Péter Kisfali, Kinga Hadzsiev, Judit Bene, Béla I Melegh et al.
    Pages 105-111

  16. Low-Dose Amitriptyline-Induced Acute Dystonia in a Patient with Metachromatic Leukodystrophy

    • Gerarda Cappuccio, Nicola Brunetti-Pierri, Gaetano Terrone, Alfonso Romano, Generoso Andria, Ennio Del Giudice
    Pages 113-116

  17. Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process

    • E. J. Langereis, I. E. T. van den Berg, D. J. J. Halley, B. J. H. M. Poorthuis, F. M. Vaz, J. H. J. Wokke et al.
    Pages 117-120

  18. Case Report of Argininemia: The Utility of the Arginine/Ornithine Ratio for Newborn Screening (NBS)

    • Allison Jay, Mary Seeterlin, Eleanor Stanley, Robert Grier
    Pages 121-124

  19. Leptin Levels in Children and Adults with Classic Galactosaemia

    • Ina Knerr, Karen P. Coss, Peter P. Doran, Joanne Hughes, Nick Wareham, Keith Burling et al.
    Pages 125-131

  20. CRIM-Negative Pompe Disease Patients with Satisfactory Clinical Outcomes on Enzyme Replacement Therapy

    • Hamoud H. Al Khallaf, Jennifer Propst, Serge Geffrard, Eleanor Botha, M. Ali Pervaiz
    Pages 133-137
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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

  • 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 Genetics Unit, University of Oxford, Oxford, UK

    Garry Brown

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

    Eva Morava

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

    Verena Peters

Bibliographic Information

  • Book Title: JIMD Reports - Case and Research Reports, 2012/6

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

  • Series Title: JIMD Reports

  • DOI: https://doi.org/10.1007/978-3-642-35518-9

  • Publisher: Springer Berlin, Heidelberg

  • eBook Packages: Medicine, Medicine (R0)

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

  • Softcover ISBN: 978-3-642-35517-2Published: 18 December 2012

  • eBook ISBN: 978-3-642-35518-9Published: 18 December 2012

  • Series ISSN: 2192-8304

  • Series E-ISSN: 2192-8312

  • Edition Number: 1

  • Number of Pages: VII, 142

  • Number of Illustrations: 46 b/w illustrations

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

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