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JIMD Reports, Volume 37

  • Eva Morava
  • Matthias Baumgartner
  • Marc Patterson
  • Shamima Rahman
  • Johannes Zschocke
  • Verena Peters
Book

Part of the JIMD Reports book series (JIMD, volume 37)

Table of contents

  1. Front Matter
    Pages i-vi
    PDF
  2. Favourable Outcome in Two Pregnancies in a Patient with 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
    David Santosa, Markus G. Donner, Stephan vom Dahl, Markus Fleisch, Thomas Hoehn, Ertan Mayatepek et al.
    Pages 1-5
  3. Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease
    Carla Ruiz-Andrés, Elena Sellés, Angela Arias, Laura Gort, The Spanish LAL Deficiency Working Group
    Pages 7-12
  4. Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis
    Lisette M. Berends, Eduard A. Struys, Birthe Roos, Ulbe Holwerda, Erwin E. W. Jansen, Gajja S. Salomons et al.
    Pages 13-17
  5. Galactose Epimerase Deficiency: Expanding the Phenotype
    Filipa Dias Costa, Sacha Ferdinandusse, Carla Pinto, Andrea Dias, Liesbeth Keldermans, Dulce Quelhas et al.
    Pages 19-25
  6. Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism
    Nina A. Zeltner, Matthias R. Baumgartner, Aljona Bondarenko, Regina Ensenauer, Daniela Karall, Stefan Kölker et al.
    Pages 27-35
  7. Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation
    Francesca Minoia, Marta Bertamino, Paolo Picco, Mariasavina Severino, Andrea Rossi, Chiara Fiorillo et al.
    Pages 37-43
  8. Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency
    Hallvard Reigstad, Berit Woldseth, Johannes Häberle
    Pages 45-47
  9. Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?
    M. Fleger, J. Willomitzer, R. Meinsma, M. Alders, J. Meijer, R. C. M. Hennekam et al.
    Pages 49-54
  10. Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy
    Sally P. Stabler, Cynthia Freehauf, Robert H. Allen, Janet Thomas, Renata Gallagher
    Pages 55-61
  11. Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency
    Deeksha S. Bali, Jennifer L. Goldstein, Keri Fredrickson, Stephanie Austin, Surekha Pendyal, Catherine Rehder et al.
    Pages 63-72
  12. Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria
    Charlotte Veyrat-Durebex, Christelle Debeissat, Hélène Blasco, Franck Patin, Hélène Henique, Patrick Emond et al.
    Pages 73-83
  13. The Impact of Fabry Disease on Reproductive Fitness
    Dawn A. Laney, Virginia Clarke, Allison Foley, Eric W. Hall, Scott E. Gillespie, Myrl Holida et al.
    Pages 85-97
  14. Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria
    Kosei Hasegawa, Hiroyuki Tanaka, Miho Yamashita, Yousuke Higuchi, Takayuki Miyai, Junko Yoshimoto et al.
    Pages 99-106
  15. Treatment Adherence and Psychological Wellbeing in Maternal Carers of Children with Phenylketonuria (PKU)
    Emma Medford, Dougal Julian Hare, Katie Carpenter, Stewart Rust, Simon Jones, Anja Wittkowski
    Pages 107-114
  16. Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia
    Lindsey Welling, Susan E. Waisbren, Kevin M. Antshel, Hugh-Owen Colhoun, Matthias Gautschi, Stephanie Grünewald et al.
    Pages 115-123

About this book

Introduction

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.

Keywords

inherited metabolic diseases pediatrics medical genetics Mendelian disorder endocrinology

Editors and affiliations

  • Eva Morava
    • 1
  • Matthias Baumgartner
    • 2
  • Marc Patterson
    • 3
  • Shamima Rahman
    • 4
  • Johannes Zschocke
    • 5
  • Verena Peters
    • 6
  1. 1.Tulane University Medical School New OrleansUSA
  2. 2.Division of Metabolism & Children's Research CentreUniversity Children's Hospital ZürichZürichSwitzerland
  3. 3.Division of Child and Adolescent NeurologyMayo ClinicRochesterUSA
  4. 4.Clinical and Molecular Genetics UnitUCL Institute of Child HealthLondonUnited Kingdom
  5. 5.Division of Human GeneticsMedical University InnsbruckInnsbruckAustria
  6. 6.Center for Child and Adolescent MedicineHeidelberg University HospitalHeidelbergGermany

Bibliographic information

  • DOI https://doi.org/10.1007/978-3-662-56359-5
  • Copyright Information Society for the Study of Inborn Errors of Metabolism (SSIEM) 2017
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Biomedical and Life Sciences
  • Print ISBN 978-3-662-56358-8
  • Online ISBN 978-3-662-56359-5
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • Buy this book on publisher's site
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