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Advances in Diagnosis of Biochemical Disorders

  • H. Galjaard

Abstract

At present some 4500 disorders in man are known or assumed to be of Mendelian inheritance. Most of the genetic disorders have initially been defined by clinicians on the basis of clinical and pathological manifestations [1–3]. The development of chromatographic methods in the 1950s stimulated the use of chemical analyses in the diagnosis of genetic disorders and led to an exponential discovery rate of hereditary amino acidopathies during the 1960s. The important work on normal and abnormal haemoglobins by Pauling, Ingram and others led the way to the search for the responsible (enzyme) protein defects in other genetic diseases and during the past three decades nearly 400 genetic protein defects have been identified. This has offered new perspectives in health care and in basic research.

Keywords

Chorionic Villus Lysosomal Storage Disorder Purine Nucleoside Phosphorylase Fetal Abnormality Antenatal Diagnosis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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© Springer-Verlag London Limited 1991

Authors and Affiliations

  • H. Galjaard

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