Beta-mercaptolactate cysteine disulphiduria in a mentally retarded Scottish male

J Ment Defic Res. 1976 Jun;20(2):99-104. doi: 10.1111/j.1365-2788.1976.tb00934.x.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple
  • Adult
  • Amino Acid Metabolism, Inborn Errors / urine*
  • Cataract / congenital
  • Chromatography, Ion Exchange
  • Chromatography, Paper
  • Chromatography, Thin Layer
  • Chromosome Aberrations
  • Chromosome Disorders
  • Consanguinity
  • Cysteine / urine*
  • Disulfides / urine*
  • Genes, Recessive
  • Humans
  • Intellectual Disability / urine*
  • Lactates / urine
  • Male
  • Scotland
  • Sulfhydryl Compounds / urine*

Substances

  • Disulfides
  • Lactates
  • Sulfhydryl Compounds
  • Cysteine