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  • © 2019

JIMD Reports, Volume 45

Editors:

  1. Eva Morava

    1. Tulane University Medical School, New Orleans, USA

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  2. Matthias Baumgartner

    1. Division of Metabolism & Children’s Research Centre, University Children’s Hospital Zürich, Zürich, 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, UK

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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

Part of the book series: JIMD Reports (JIMD, volume 45)

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Table of contents (16 chapters)

  1. Front Matter

    Pages i-vi
    PDF

  2. I-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing the Airway and Respiratory Consequences of the Disease

    • Rachel Edmiston, Stuart Wilkinson, Simon Jones, Karen Tylee, Alexander Broomfield, Iain A. Bruce
    Pages 1-8

  3. Oral Ganglioside Supplement Improves Growth and Development in Patients with Ganglioside GM3 Synthase Deficiency

    • Heng Wang, Valerie Sency, Paul McJarrow, Alicia Bright, Qianyang Huang, Karen Cechner et al.
    Pages 9-20

  4. Feeding Difficulties and Orofacial Myofunctional Disorder in Patients with Hepatic Glycogen Storage Diseases

    • Chenia Caldeira Martinez, Tássia Tonon, Tatiéle Nalin, Lilia Farret Refosco, Carolina Fischinger Moura de Souza, Ida Vanessa Doederlein Schwartz
    Pages 21-27

  5. Auxiliary Partial Orthotopic Liver Transplantation for Monogenic Metabolic Liver Diseases: Single-Centre Experience

    • Naresh P. Shanmugam, Joseph J. Valamparampil, Mettu Srinivas Reddy, Khoula Julenda Al Said, Khalid Al-Thihli, Nadia Al-Hashmi et al.
    Pages 29-36

  6. A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy

    • B. Ryder, M. Tolomeo, Z. Nochi, M. Colella, M. Barile, R. K. Olsen et al.
    Pages 37-44

  7. The Effect of Continuous Intravenous Glucagon on Glucose Requirements in Infants with Congenital Hyperinsulinism

    • Colin P. Hawkes, Juan J. Lado, Stephanie Givler, Diva D. De Leon
    Pages 45-50

  8. Case of Neonatal Fatality from Neuromuscular Variant of Glycogen Storage Disease Type IV

    • Tavleen Sandhu, Michelle Polan, Zhongxin Yu, Rufei Lu, Abhishek Makkar
    Pages 51-55

  9. Acute and Chronic Management in an Atypical Case of Ethylmalonic Encephalopathy

    • Thomas M. Kitzler, Indra R. Gupta, Bradley Osterman, Chantal Poulin, Yannis Trakadis, Paula J. Waters et al.
    Pages 57-63

  10. Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1

    • André B. P. van Kuilenburg, Judith Meijer, Rutger Meinsma, Belén Pérez-Dueñas, Marielle Alders, Zahurul A. Bhuiyan et al.
    Pages 65-69

  11. Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase Deficiency

    • Christina Peroutka, Jacqueline Salas, Jacquelyn Britton, Juliet Bishop, Lisa Kratz, Maureen M. Gilmore et al.
    Pages 71-76

  12. Enzyme Replacement Therapy in Pregnant Women with Fabry Disease: A Case Series

    • Pehuén Fernández, Shunko Oscar Fernández, Jacqueline Griselda Mariela Gonzalez, Tabaré Fernández, Cinthia Claudia Fernández, Segundo Pastor Fernández
    Pages 77-81

  14. The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian Federation

    • G. V. Baydakova, T. A. Ivanova, S. V. Mikhaylova, D. Kh. Saydaeva, L. L. Dzhudinova, A. I. Akhlakova et al.
    Pages 89-93

  16. Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?

    • Imre F. Schene, Christoph G. Korenke, Hidde H. Huidekoper, Ludo van der Pol, Dennis Dooijes, Johannes M. P. J. Breur et al.
    Pages 99-104

  17. A Hemizygous Deletion Within the PGK1 Gene in Males with PGK1 Deficiency

    • Andrea Medrano Behlmann, Namita A. Goyal, Xiaoyu Yang, Ping H. Chen, Arunkanth Ankala
    Pages 105-110
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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 & Children’s Research Centre, University Children’s Hospital Zürich, Zürich, 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, UK

    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

  • Book Title: JIMD Reports, Volume 45

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

  • Series Title: JIMD Reports

  • DOI: https://doi.org/10.1007/978-3-662-58647-1

  • Publisher: Springer Berlin, Heidelberg

  • eBook Packages: Biomedical and Life Sciences, Biomedical and Life Sciences (R0)

  • Copyright Information: Society for the Study of Inborn Errors of Metabolism (SSIEM) 2019

  • Softcover ISBN: 978-3-662-58646-4Published: 28 January 2019

  • eBook ISBN: 978-3-662-58647-1Published: 17 January 2019

  • Series ISSN: 2192-8304

  • Series E-ISSN: 2192-8312

  • Edition Number: 1

  • Number of Pages: VI, 110

  • Number of Illustrations: 15 b/w illustrations, 13 illustrations in colour

  • Topics: Human Genetics, Metabolic Diseases, Pediatrics, Molecular Medicine

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Access via your institution

Buy it now

eBook USD 39.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 54.99
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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