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Organic acids in the study of metabolic diseases

  • Chapter
Organic Acids in Man

Abstract

Chapter 1 has put the organic acidurias as inherited metabolic diseases into perspective and has indicated the collective incidence of such diseases in the general population and the impact that they have on medicine, particularly paediatric and perinatal medicine. As stated there, and elsewhere (Tanaka, 1975), many of the organic acidurias are accompanied by closely similar clinical presentations and their diagnosis cannot be made on clinical grounds alone. The majority of the diseases known today are characterized by acute life-threatening illness in the newborn and infant and less frequently with unexplained developmental delay or illness in later childhood. Surviving cases are frequently severely physically or mentally handicapped and make heavy demands on clinical resources. The study of the organic acidurias and of organic acids in man is therefore important, for the early diagnosis of disease, both prenatal, and postnatal in the newborn and infant (Fig. 9.1).

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  1. M.R.C. Clinical Research Centre, Harrow, UK

    R. A. Chalmers & A. M. Lawson

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  1. R. A. Chalmers
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  2. A. M. Lawson
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© 1982 R. A. Chalmers and A. M. Lawson

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Chalmers, R.A., Lawson, A.M. (1982). Organic acids in the study of metabolic diseases. In: Organic Acids in Man. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-5778-7_9

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  • DOI: https://doi.org/10.1007/978-94-009-5778-7_9

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-94-009-5780-0

  • Online ISBN: 978-94-009-5778-7

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