Skip to main content
SpringerLink
Log in

Organic Acidurias

Proceedings of the 21st Annual Symposium of the SSIEM, Lyon, September 1983 The combined supplements 1 and 2 of Journal of Inherited Metabolic Disease Volume 7 (1984)

  • Conference proceedings
  • © 1984

Overview

Editors:
  1. G. M. Addison
    View editor publications

    You can also search for this editor in PubMed   Google Scholar

  2. R. A. Chalmers
    View editor publications

    You can also search for this editor in PubMed   Google Scholar

  3. P. Divry
    View editor publications

    You can also search for this editor in PubMed   Google Scholar

  4. R. A. Harkness
    View editor publications

    You can also search for this editor in PubMed   Google Scholar

  5. R. J. Pollitt
    View editor publications

    You can also search for this editor in PubMed   Google Scholar

This is a preview of subscription content, log in via an institution to check access.

Access this book

Log in via an institution
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

Licence this eBook for your library

Institutional subscriptions

Table of contents (54 papers)

  1. A New Disorder: 4-Hydroxybutyric Aciduria

    1. 4-Hydroxybutyric Aciduria: A New Inborn Error of Metabolism. II. Biochemical Findings

      • C. Jakobs, P. Divry, J. Kneer, D. Rating, M. Hermier, F. Hanefeld
      Pages 92-94

    2. 4-Hydroxybutyric Aciduria: A New Inborn Error of Metabolism. III. Enzymology and Inheritance

      • K. M. Gibson, I. Jansen, L. Sweetman, W. L. Nyhan, D. Rating, C. Jakobs et al.
      Pages 95-96

  2. Short Communications

    1. Preface to Short Communications

      • R. A. Harkness, R. J. Pollitt
      Pages 97-97

    2. Free Communications

      • G. M. Addison, R. A. Chalmers, P. Divry, R. A. Harkness, R. J. Pollitt
      Pages 97-98

    3. Electron-transferring Flavoprotein Deficiency in the Multiple Acyl-CoA Dehydrogenation Disorders, Glutaric Aciduria Type II and Ethylmalonic—adipic Aciduria

      • W. J. Rhead, B. A. Amendt
      Pages 99-100

    4. Glutaric Aciduria Type II: Multiple Defects in Isolated Muscle Mitochondria and Deficient β-Oxidation in Fibroblasts

      • P. D. Mooy, M. A. H. Giesberts, H. H. van Gelderen, H. R. Scholte, I. E. M. Luyt-Houwen, H. Przyrembel et al.
      Pages 101-102

    5. Glutaryl-CoA Dehydrogenase Activity Determined with Intact Electron-transport Chain: Application to Glutaric Aciduria Type II

      • E. Christensen
      Pages 103-104

    6. Medium Chain Acyl-CoA Dehydrogenase Deficiency: Apparent K m and V max Values for Fibroblast Acyl-CoA Dehydrogenase towards Octanoyl CoA in Patient and Control Cell Lines

      • N. Gregersen, S. Kølvraa
      Pages 105-106

    7. Mitochondrial Myopathy with Partial Cytochrome Oxidase Deficiency and Impaired Oxidation of NADH-Linked Substrates

      • H. S. A. Sherratt, N. E. F. Cartlidge, M. A. Johnson, D. M. Turnbull
      Pages 107-108

    8. L-Carnitine Insufficiency in Disorders of Organic acid Metabolism: Response to L-Carnitine by Patients with Methylmalonic Aciduria and 3-Hydroxy-3-methylglutaric Aciduria

      • R. A. Chalmers, T. E. Stacey, B. M. Tracey, C. de Sousa, C. R. Roe, D. S. Millington et al.
      Pages 109-110

    9. An Evaluation of Urine Lactate for Detection of Inborn Errors of Metabolism

      • D. B. Dunger, J. V. Leonard
      Pages 111-112

    10. Metabolic Acidosis versus a Compensation of Respiratory Alkalosis in Four Children with Leigh’s Disease

      • E. Pronicka, B. Halikowski
      Pages 113-114

    11. Chemical Diagnosis of Dihydrolipoyl Dehydrogenase Deficiency

      • T. Kuhara, Y. Inoue, T. Shinka, M. Matsumoto, I. Matsumoto, M. Yoshino et al.
      Pages 115-116

    12. 3-Hydroxy-3-Methylglutaric, 3-Methylglutaconic and 3-Methylglutaric Acids can be Non-specific Indicators of Metabolic Disease

      • J. Hammond, B. Wilcken
      Pages 117-118

    13. Different Organic Acid Patterns in Urine and in Cerebrospinal Fluid in a Patient with Biotinidase Deficiency

      • M. Di Rocco, A. Superti-Furga, P. Durand, R. Cerone, C. Romano, C. Bachmann et al.
      Pages 119-120

    14. Biotinidase Deficiency: The Possible Role of Biotinidase in the Processing of Dietary Protein-bound Biotin

      • B. Wolf, G. S. Heard, J. R. Secor McVoy, H. M. Raetz
      Pages 121-122

    15. Biotin-responsive Multiple Carboxylase Deficiency (MCD): Deficient Biotinidase Activity Associated with Renal Loss of Biotin

      • E. R. Baumgartner, T. Suormala, H. Wick, J. P. Bonjour
      Pages 123-125

    16. Organic Acids in Urine: Sample Preparation for GC/MS

      • C. Bachmann, R. Bühlmann, J. P. Colombo
      Pages 126-126

    17. Experience with Prenatal Diagnosis of Propionic Acidaemia and Methylmalonic Aciduria

      • A. H. Fensom, P. F. Benson, R. A. Chalmers, B. M. Tracey, D. Watson, G. S. King et al.
      Pages 127-128

    18. Methylmalonic Aciduria with Homocystinuria

      • A. Ribes, M. A. Vilaseca, P. Briones, A. Maya, J. Sabater, P. Pascual et al.
      Pages 129-130
Back to top

Keywords

Bibliographic Information

  • Book Title: Organic Acidurias

  • Book Subtitle: Proceedings of the 21st Annual Symposium of the SSIEM, Lyon, September 1983 The combined supplements 1 and 2 of Journal of Inherited Metabolic Disease Volume 7 (1984)

  • Editors: G. M. Addison, R. A. Chalmers, P. Divry, R. A. Harkness, R. J. Pollitt

  • DOI: https://doi.org/10.1007/978-94-009-5612-4

  • Publisher: Springer Dordrecht

  • eBook Packages: Springer Book Archive

  • Copyright Information: SSIEM and MTP Press Limited 1984

  • Softcover ISBN: 978-94-010-8975-3Published: 10 January 2012

  • eBook ISBN: 978-94-009-5612-4Published: 06 December 2012

  • Edition Number: 1

  • Number of Pages: 166

  • Topics: Pediatrics, Medical Biochemistry, Internal Medicine

Publish with us

Policies and ethics

Back to top

Search

Navigation