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  • Book
  • © 2015

JIMD Reports, Volume 20

Editors:

  1. Johannes Zschocke

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

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  2. Matthias Baumgartner

    1. Division for Metabolic Diseases, University Children´s Hospital, Zürich, Switzerland

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  3. Eva Morava

    1. Tulane University Medical School, New Orleans, USA

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  4. Marc Patterson

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

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  5. Shamima Rahman

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

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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 20)

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Table of contents (15 chapters)

  1. Front Matter

    Pages i-vi
    PDF

  2. Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings

    • Mauricio De Castro, Dina J. Zand, Uta Lichter-Konecki, Brian Kirmse
    Pages 1-4

  3. Expanding Our Understanding of Lower Urinary Tract Symptoms and Incontinence in Adults with Pompe Disease

    • Erin R. McNamara, Stephanie Austin, Laura Case, John S. Wiener, Andrew C. Peterson, Priya S. Kishnani
    Pages 5-10

  4. Carnitine-Acylcarnitine Translocase Deficiency: Experience with Four Cases in Spain and Review of the Literature

    • Isidro Vitoria, Elena Martín-Hernández, Luis Peña-Quintana, María Bueno, Pilar Quijada-Fraile, Jaime Dalmau et al.
    Pages 11-20

  5. Lack of Glibenclamide Response in a Case of Permanent Neonatal Diabetes Caused by Incomplete Inactivation of Glucokinase

    • Josep Oriola, Francisca Moreno, Angel Gutiérrez-Nogués, Sara León, Carmen-María García-Herrero, Olivier Vincent et al.
    Pages 21-26

  6. Morphology and Function of Cerebral Arteries in Adults with Pompe Disease

    • Ole Hensel, F. Hanisch, K. Stock, D. Stoevesandt, M. Deschauer, T. Müller
    Pages 27-33

  7. Parkinsonism in Phenylketonuria: A Consequence of Dopamine Depletion?

    • Marieke Velema, Erik Boot, Marc Engelen, Carla Hollak
    Pages 35-38

  8. Characterization of Variegate Porphyria Mutations Using a Minigene Approach

    • Barbara Xoana Granata, Marco Baralle, Laura De Conti, Victoria Parera, Maria Victoria Rossetti
    Pages 39-44

  10. Tandem Duplication of Exons 1–7 Neither Impairs ATP7A Expression Nor Causes a Menkes Disease Phenotype

    • Eun-Young Choi, Keyur Patel, Marie Reine Haddad, Ling Yi, Courtney Holmes, David S. Goldstein et al.
    Pages 57-63

  11. Outcome of Patients with Classical Infantile Pompe Disease Receiving Enzyme Replacement Therapy in Germany

    • Andreas Hahn, Susanne Praetorius, Nesrin Karabul, Johanna Dießel, Dorle Schmidt, Reinald Motz et al.
    Pages 65-75

  12. Long-Term Functional Outcomes of Children with Hurler Syndrome Treated with Unrelated Umbilical Cord Blood Transplantation

    • Hannah Y. Coletti, Mieke Aldenhoven, Karina Yelin, Michele D. Poe, Joanne Kurtzberg, Maria L. Escolar
    Pages 77-86

  14. A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature

    • Anna Ardissone, Eleonora Lamantea, Jade Quartararo, Cristina Dallabona, Franco Carrara, Isabella Moroni et al.
    Pages 95-101

  15. Carnitine Levels in Skeletal Muscle, Blood, and Urine in Patients with Primary Carnitine Deficiency During Intermission of l-Carnitine Supplementation

    • J. Rasmussen, J. A. Thomsen, J. H. Olesen, T. M. Lund, M. Mohr, J. Clementsen et al.
    Pages 103-111

  16. Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula

    • Ana Marcão, María L. Couce, Célia Nogueira, Helena Fonseca, Filipa Ferreira, José M. Fraga et al.
    Pages 113-120
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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

  • Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  • Division for Metabolic Diseases, University Children´s Hospital, Zürich, Switzerland

    Matthias Baumgartner

  • Tulane University Medical School, New Orleans, USA

    Eva Morava

  • Division of Child and Adolescent Neurolo, Mayo Clinic, Rochester, USA

    Marc Patterson

  • Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, United Kingdom

    Shamima Rahman

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

    Verena Peters

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Bibliographic Information

  • Book Title: JIMD Reports, Volume 20

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

  • Series Title: JIMD Reports

  • DOI: https://doi.org/10.1007/978-3-662-46700-8

  • Publisher: Springer Berlin, Heidelberg

  • eBook Packages: Medicine, Medicine (R0)

  • Copyright Information: SSIEM and Springer-Verlag Berlin Heidelberg 2015

  • Softcover ISBN: 978-3-662-46699-5Published: 09 April 2015

  • eBook ISBN: 978-3-662-46700-8Published: 26 March 2015

  • Series ISSN: 2192-8304

  • Series E-ISSN: 2192-8312

  • Edition Number: 1

  • Number of Pages: VI, 120

  • Number of Illustrations: 18 b/w illustrations, 10 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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