Studies in Inherited Metabolic Disease

Prenatal and Perinatal Diagnosis

  • Editors
  • G. M. Addison
  • J. M. Connor
  • R. A. Harkness
  • R. J. Pollitt

Table of contents

  1. Front Matter
    Pages i-xii
  2. Preface

    1. G. M. Addison, J. M. Connor, R. A. Harkness, R. J. Pollitt
      Pages 1-1
  3. Family Influences on A. E. Garrod’s Thinking

  4. The Salience of Garrod’s ‘Molecular Groupings’ and ‘Inborn Factors in Disease’

  5. Prenatal and perinatal diagnosis

    1. J. M. Saudubray, H. Ogier, J. P. Bonnefont, A. Munnich, A. Lombes, F. Hervé et al.
      Pages 25-41
    2. J. M. Connor
      Pages 89-96
    3. M. J. Whittle, D. H. Gilmore, M. B. McNay
      Pages 97-104
    4. B. Fowler, L. Giles, A. Cooper, I. B. Sardharwalla
      Pages 105-117
    5. R. B. H. Schutgens, R. J. A. Wanders, H. S. A. Heymans, G. Schrakamp, H. Van Den Bosch, J. M. Tager
      Pages 118-134
    6. F. M. Pope, S. C. M. Daw, P. Narcisi, A. R. Richards, A. C. Nicholls
      Pages 135-173
    7. E. Bakker, E. J. Bonten, H. Veenema, J. T. den Dunnen, P. M. Grootscholten, G. J. B. van Ommen et al.
      Pages 174-190
    8. J. B. Holton, J. T. Allen, M. G. Gillett
      Pages 202-206
    9. R. V. Thakker, K. E. Davies, J. L. H. O’Riordan
      Pages 231-245
  6. Short Communications

    1. G. M. Addison, R. A. Harkness, R. J. Pollitt
      Pages 247-256
    2. K. Tada, J. Aikawa, Y. Igarashi, K. Hayasaka, K. Narisawa, M. Owada et al.
      Pages 260-262
    3. C. Pérez-Cerdá, B. Merinero, P. Sanzi, A. Jiménezi, M. J. García, A. Urbón et al.
      Pages 274-276
    4. R. A. Chalmers, J. Mistry, R. Penketh, I. R. McFadyen
      Pages 283-285
    5. C. J. Danpure, P. J. Cooper, P. R. Jennings, P. J. Wise, R. J. Penketh, C. H. Rodeck
      Pages 286-288
    6. Y. S. Shin, M. Rieth, J. Tausenfreund, W. Endres
      Pages 289-291
    7. I. Maire, G. Mandon, M. Mathieu
      Pages 292-294
    8. N. Blau, A. Niederwieser, H. Ch. Curtius, L. Kierat, W. Leimbacher, A. Matasovic et al.
      Pages 295-298
    9. A. Iavarone, G. Dolfin, G. Bracco, M. Zaffaroni, M. R. Gallina, G. Bona
      Pages 299-300
    10. R. J. A. Wanders, E. A. C. Wiemer, S. Brul, R. B. H. Schutgens, H. van den Bosch, J. M. Tager
      Pages 301-304
    11. D. Bozon, I. Maire, A. Vialle, G. Mandon, P. Guibaud, R. Gilly
      Pages 305-307
    12. W. Lissens, M. Vercammen, W. Foulon, L. De Catte, I. Dab, A. Malfroot et al.
      Pages 308-310
    13. U. Caruso, R. Cerone, A. R. Fantasia, M. C. Schiaffino, G. Zignego, C. Romano
      Pages 311-314
    14. A. Burchell, I. D. Waddell, L. Stewart, R. Hume
      Pages 315-317
    15. M. Downing, P. Rose, M. J. Bennett, N. J. Manning, R. J. Pollitt
      Pages 321-324
    16. P. Rinaldo, J. J. O’Shea, S. I. Goodman, L. V. Miller, P. V. Fennessey, D. T. Whelan et al.
      Pages 325-328
    17. R. Matalon, R. Kaul, J. Casanova, K. Michals, A. Johnson, I. Rapin et al.
      Pages 329-331
    18. B. François, M. Diels, M. de la Brassinne
      Pages 332-334
    19. Nenad Blau, H. Ch. Curtius, Th. Kuster, A. Matasovic, G. Schoedon, J. L. Dhondt et al.
      Pages 335-338
    20. F. J. van Spronsen, R. Berger, G. P. A. Smit, J. B. C. de Klerk, M. Duran, C. M. A. Bijleveld et al.
      Pages 339-342
    21. M. Brivet, F. Migayron, J. Roger, G. Cheron, A. Lemonnier
      Pages 343-345
    22. N. Bashan, R. Potashnik, M. Phillip, Y. S. Shin, S. W. Moses
      Pages 346-348
    23. F. A. Wijburg, P. G. Barth, W. Ruitenbeek, R. J. A. Wanders, G. D. Vos, S. L. B. Plods van Amstel et al.
      Pages 349-351
    24. W. Ruitenbeek, J. M. F. Trijbels, J. C. Fischer, R. C. A. Sengers, A. J. M. Janssen, C. M. C. Kerkhof
      Pages 352-354

About this book


With improved control of most environmental causes of disease, genetic illness has assumed a primary importance in the causation of handicap and mortality in all age groups. At present, effective therapy is available for relatively few genetic conditions and prenatal diagnosis is an important option for couples at high risk. The task of providing prenatal diagnosis for these couples requires a team approach between clinicians and scientists, and is complicated by the large number of diverse conditions and by the rapid developments in the field, both obstetric in relation to imaging and tissue sampling methods and genetic in relation to techniques for analysis. Against this background, the aim of the Symposium was to provide an overview of the current status of prenatal and perinatal diagnosis of inborn errors of metabolism. The format consisted of the usual mixture of specific invited overviews and free communications in either oral or poster form. The invited overviews, as can be seen from this publication, covered a wide range, from accepted methods for neonatal diagnosis and screening to newer techniques for prenatal diagnosis and likely future developments with respect to gene therapy. Similarly, the oral com­ munications included reviews of experience with biochemical analysis of chorionic villus sampling from major centres, more specific examples of progress towards the basic defect in Batten's disease and Canavan's disease, and prospects for effective therapy in Menkes' disease and a lipid myopathy.


Galactose Glycogen enzymes gene therapy metabolism transplantation

Bibliographic information

  • DOI
  • Copyright Information Springer Science+Business Media B.V. 1989
  • Publisher Name Springer, Dordrecht
  • eBook Packages Springer Book Archive
  • Print ISBN 978-94-010-6970-0
  • Online ISBN 978-94-009-1069-0
  • Buy this book on publisher's site