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  • Book
  • © 2017

JIMD Reports, Volume 34

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 Research Centre, University Children’s Hospital Zurich, Zurich, Switzerland

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  3. Marc Patterson

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

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  4. Shamima Rahman

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

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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
  • Includes supplementary material: sn.pub/extras

Part of the book series: JIMD Reports (JIMD, volume 34)

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Table of contents (15 chapters)

  1. Front Matter

    Pages i-vi
    PDF

  2. Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype

    • Jun Sun, Angela J McGillivray, Jason Pinner, Zhihui Yan, Fengxia Liu, Drago Bratkovic et al.
    Pages 1-9

  4. The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965–2014

    • Annika Ohlsson, Helene Bruhn, Anna Nordenström, Rolf H. Zetterström, Anna Wedell, Ulrika von Döbeln
    Pages 19-26

  5. DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion

    • C. Bursle, D. Brown, J. Cardinal, F. Connor, S. Calvert, D. Coman
    Pages 27-32

  6. Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review

    • Ashwini Maratha, Hugh-Owen Colhoun, Ina Knerr, Karen P. Coss, Peter Doran, Eileen P. Treacy
    Pages 33-42

  7. Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen

    • Rebecca D. Ganetzky, Emma Bedoukian, Matthew A. Deardorff, Can Ficicioglu
    Pages 43-47

  8. Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult Patients

    • M. M. Welsink-Karssies, J. A. W. Polderman, E. J. Nieveen van Dijkum, B. Preckel, W. S. Schlack, G. Visser et al.
    Pages 49-54

  9. Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency

    • Shane C. Quinonez, Andrea H. Seeley, Cindy Lam, Thomas W. Glover, Bruce A. Barshop, Catherine E. Keegan
    Pages 55-61

  10. Delayed Infusion Reactions to Enzyme Replacement Therapies

    • Zahra Karimian, Chester B. Whitley, Kyle D. Rudser, Jeanine R. Jarnes Utz
    Pages 63-70

  11. Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder

    • C. Maxit, I. Denzler, D. Marchione, G. Agosta, J. Koster, R. J. A. Wanders et al.
    Pages 71-75

  12. Improved Measurement of Brain Phenylalanine and Tyrosine Related to Neuropsychological Functioning in Phenylketonuria

    • Susan E. Waisbren, Sanjay P. Prabhu, Patricia Greenstein, Carter Petty, Donald Schomer, Vera Anastasoaie et al.
    Pages 77-86

  13. Table of Phenylalanine Content of Foods: Comparative Analysis of Data Compiled in Food Composition Tables

    • Ana Claudia Marquim F. Araújo, Wilma M. C. Araújo, Ursula M. Lanfer Marquez, Rita Akutsu, Eduardo Y. Nakano
    Pages 87-96

  14. Inhaled Sargramostim Induces Resolution of Pulmonary Alveolar Proteinosis in Lysinuric Protein Intolerance

    • Laura M. Tanner, Johanna Kurko, Maaria Tringham, Heikki Aho, Juha Mykkänen, Kirsti Näntö-Salonen et al.
    Pages 97-104

  16. Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency

    • Savita Verma Attri, Pratibha Singhi, Natrujee Wiwattanadittakul, Jyotindra N. Goswami, Naveen Sankhyan, Gajja S. Salomons et al.
    Pages 111-115
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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

  • Tulane University Medical School, New Orleans, USA

    Eva Morava

  • Division of Metabolism and Children’s Research Centre, University Children’s Hospital Zurich, Zurich, Switzerland

    Matthias Baumgartner

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

    Marc Patterson

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

    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

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Bibliographic Information

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Policies and ethics

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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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