Biopsy Approach to the Study and Diagnosis of Inborn Errors of Metabolism Affecting the Brain

  • M. Daria Haust
Conference paper
Part of the Sitzungsberichte der Heidelberger Akademie der Wissenschaften book series (HD AKAD, volume 1993/94 / 1993/1)

Abstract

It may be stated that the discoveries of Sir Archibald Garrod at the turn of the century (1;2) and his coining of the term “inborn errors of metabolism” mark the beginning of the history of human biochemical genetics. Whereas since that time the number of diseases in this category and their biochemical basis has been growing steadily, the last two decades witnessed a true explosion of knowledge in this field, which has been also utilized in prenatal diagnosis, genetic counselling and attempts at suitable therapeutic measures.

Keywords

Urea Carbohydrate Hexagonal Paraffin Sine 

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Copyright information

© Springer-Verlag Berlin Heidelberg 1993

Authors and Affiliations

  • M. Daria Haust
    • 1
  1. 1.Departments of Pathology and PaediatricsThe University of Western Ontario and the Children’s Psychiatric Research InstituteLondonCanada

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