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Cystathioninuria in Down's syndrome
Author(s) -
HESTNES A.,
BORUD O.,
LUNDE H.,
GJESSING L.
Publication year - 1989
Publication title -
journal of intellectual disability research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.941
H-Index - 104
eISSN - 1365-2788
pISSN - 0964-2633
DOI - 10.1111/j.1365-2788.1989.tb01474.x
Subject(s) - mentally retarded , pathological , aminoaciduria , down syndrome , pediatrics , psychology , psychiatry , medicine , developmental psychology , urine
. Secondary Cystathioninuria is associated with various pathological conditions (Gjessing, 1963; Gjessing & Mauritzen, 1965; Endres & Wuttge, 1978). In many cases, Cystathioninuria has been associated with mental retardation (Harris el al., 1959; Robb et al. , 1984). As far as the authors know, Cystathioninuria has not previously been described in Down's syndrome. In 1981, in the authors' institution for the mentally retarded, all patients with Down's syndrome were screened with regard to aminoaciduria, using thin layer chromatography. In the course of this process, a case of Cystathioninuria was discovered. The results are presented in detail.