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- W2023429934 abstract "CYSTATHIONINE SYNTHASE DEFICIENCY (Fig. 1), which is inherited in an autosomal recessive manner , results in the clinical syndrome of homocystinuria. The full clinical picture is distinct 1 and may include dislocation of the optic lenses, progressive skeletal changes, severe t h r o m b o e m b o l i c disease , and, of ten, var iable degrees of mental retardation. Synthase activity, and its absence in affected individuals, has been demonstrated in liver and brain2,3,7; more recently it has been found in cultured skin fibroblasts 4, 6 and phytohemagglutininstimulated lymphocytes, s Heterozygotes can now be distinguished from patients and from normal individuals by determinat ion of synthase activity in cultured skin fibroblasts. 6 The utilization of cultured skin fibroblasts in the diagnosis of numerous enzymatic disorders often has been followed by attempts a t spec i f ic prenatal diagnosis by assay of cultured amniotic fluid cells. However, in order to establish proper control data, it is essential to determine optimal assay conditions for cultured amniotic" @default.
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- W2023429934 date "1974-11-01" @default.
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- W2023429934 title "Homocystinuria: Investigations of cystathionine synthase in cultured fetal cells and the prenatal determination of genetic status" @default.
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- W2023429934 doi "https://doi.org/10.1016/s0022-3476(74)80516-0" @default.
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