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Diagnosis of Hereditary Neurological Metabolic Diseases

  • A. Lowenthal
  • N. Chamoles
  • K. Adriaenssens
  • R. Humbel

Abstract

Metabolic studies in man can reveal interesting and useful information. Clinical manifestations that appear at first to be a single metabolic disease often turn out to be genetic variants attributed to mutations, either in different loci or in a single locus (polyallelism).

Keywords

Mental Retardation Phytanic Acid Disease Maple Syrup Urine Maple Syrup Urine Disease Metachromatic Leukodystrophy 
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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Copyright information

© Plenum Press, New York 1982

Authors and Affiliations

  • A. Lowenthal
    • 1
  • N. Chamoles
    • 2
  • K. Adriaenssens
    • 3
  • R. Humbel
    • 4
  1. 1.Laboratory of Neurochemistry, Born Bunge FoundationUniversitaire Instelling AntwerpenAntwerpBelgium
  2. 2.Laboratorio de NeuroquimicaClinica del SolBuenos AiresArgentina
  3. 3.Provinciaal Instituut voor HygiëneAntwerpBelgium
  4. 4.Centre Hospitalier de LuxembourgLuxembourgGermany

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