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JIMD Reports - Volume 10

  • 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. Washington State University, Clinical Pharmacology Unit, Division of Health Sciences, Spokane, 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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  • 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 10)

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Table of contents (20 chapters)

  1. Front Matter

    Pages i-vi
    Download chapter PDF

  2. Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates

    • Fatma A. Al-Jasmi, Nafisa Tawfig, Ans Berniah, Bassam R. Ali, Mahmoud Taleb, Jozef L. Hertecant et al.
    Pages 1-9

  3. Chitotriosidase Deficiency: A Mutation Update in an African Population

    • Silke Arndt, Angela Hobbs, Iain Sinclaire, Anthony B. Lane
    Pages 11-16

  4. NDUFS8-related Complex I Deficiency Extends Phenotype from “PEO Plus” to Leigh Syndrome

    • Adela Della Marina, Ulrike Schara, Angela Pyle, Claudia Möller-Hartmann, Elke Holinski-Feder, Angela Abicht et al.
    Pages 17-22

  5. Accuracy of Six Anthropometric Skinfold Formulas Versus Air Displacement Plethysmography for Estimating Percent Body Fat in Female Adolescents with Phenylketonuria

    • Teresa D. Douglas, Mary J. Kennedy, Meghan E. Quirk, Sarah H. Yi, Rani H. Singh
    Pages 23-31

  6. Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease

    • Pranoot Tanpaiboon, Jennifer L. Sloan, Patrick F. Callahan, Dorothea McAreavey, P. Suzanne Hart, Uta Lichter-Konecki et al.
    Pages 33-38

  7. Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine Deficiency

    • L. de Boer, L. A. J. Kluijtmans, E. Morava
    Pages 39-40

  8. MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation

    • Armin Finkenstedt, Melanie Schranz, Sylvia Bösch, Daniela Karall, Sabine Scholl Bürgi, Christian Ensinger et al.
    Pages 41-44

  9. Differential Phonological Awareness Skills in Children with Classic Galactosemia: A Descriptive Study of Four Cases

    • Fiona M. Lewis, David J. Coman, Maryann Syrmis, Sarah Kilcoyne, Bruce E. Murdoch
    Pages 45-52

  10. Dihydropteridine Reductase Deficiency and Treatment with Tetrahydrobiopterin: A Case Report

    • Curtis R. Coughlin II, Keith Hyland, Rebecca Randall, Can Ficicioglu
    Pages 53-56

  11. Stem Cell Transplantation for Adult-Onset Krabbe Disease: Report of a Case

    • Madeleine E. Sharp, Cornelia Laule, Stephen Nantel, Burkhard Mädler, Ritu B. Aul, Samuel Yip et al.
    Pages 57-59

  12. Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population

    • Laura López-Marín, Luis G. Gutiérrez-Solana, Luis Aldamiz-Echevarria Azuara, Rogelio Simón de las Heras, Anna Duat Rodríguez, Verónica Cantarín Extremera
    Pages 61-68

  13. Simple, Fast, and Simultaneous Detection of Plasma Total Homocysteine, Methylmalonic Acid, Methionine, and 2-Methylcitric Acid Using Liquid Chromatography and Mass Spectrometry (LC/MS/MS)

    • Xiaowei Fu, Yan-Kang Xu, Penny Chan, Paul K. Pattengale
    Pages 69-78

  14. An Exceptional Family with Three Consecutive Generations Affected by Wilson Disease

    • James T. Bennett, Kathleen B. Schwarz, Phillip D. Swanson, Si Houn Hahn
    Pages 79-82

  15. Sight-Threatening Phenylketonuric Encephalopathy in a Young Adult, Reversed by Diet

    • S. Rubin, A. L. Le Piffer, M. B. Rougier, M. N. Delyfer, J. F. Korobelnik, I. Redonnet-Vernhet et al.
    Pages 83-85

  16. Cardiac Ultrasound Findings in Infants with Severe (Hurler Phenotype) Untreated Mucopolysaccharidosis (MPS) Type I

    • L. Schroeder, P. Orchard, C. B. Whitley, J. M. Berry, J. Tolar, W. Miller et al.
    Pages 87-94

  17. A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein

    • Masashi Morita, Junpei Kobayashi, Kozue Yamazaki, Kosuke Kawaguchi, Ayako Honda, Kenji Sugai et al.
    Pages 95-102

  18. Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy

    • Malcolm Proudfoot, Philip Jardine, Agne Straukiene, Rupert Noad, Andrew Parrish, Sian Ellard et al.
    Pages 103-106

  19. Pyruvate Dehydrogenase-E1α Deficiency Presenting as Recurrent Demyelination: An Unusual Presentation and a Novel Mutation

    • Pratibha Singhi, Linda De Meirleir, Willy Lissens, Sunit Singhi, Arushi Gahlot Saini
    Pages 107-111

  20. The Management of Pregnancy in Maple Syrup Urine Disease: Experience with Two Patients

    • Michel Tchan, M. Westbrook, G. Wilcox, R. Cutler, N. Smith, R. Penman et al.
    Pages 113-117
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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

  • Washington State University, Clinical Pharmacology Unit, Division of Health Sciences, Spokane, 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

Bibliographic Information

  • Book Title: JIMD Reports - Volume 10

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

  • Series Title: JIMD Reports

  • DOI: https://doi.org/10.1007/978-3-642-37334-3

  • Publisher: Springer Berlin, Heidelberg

  • eBook Packages: Medicine, Medicine (R0)

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

  • Softcover ISBN: 978-3-642-37333-6Published: 31 May 2013

  • eBook ISBN: 978-3-642-37334-3Published: 12 March 2013

  • Series ISSN: 2192-8304

  • Series E-ISSN: 2192-8312

  • Edition Number: 1

  • Number of Pages: VI, 123

  • Number of Illustrations: 14 b/w illustrations, 14 illustrations in colour

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

  • Industry Sectors: Biotechnology, Pharma

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