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S Afr Med J ; 54(4): 168-70, 1978 Jul 22.
Article in English | MEDLINE | ID: mdl-567850

ABSTRACT

Degenerative diseases of the cerebral white matter are rare, but have severe consequences. The diagnosis of one such disorder, Krabbe's disease, may be made by biochemical analysis of cultured fibroblasts. As the disease is inherited as an autosomal recessive trait, there is a high risk of affected children being born to a heterozygote couple. A description is given of an infant with Krabbe's disease and of the monitoring of the mother's second pregnancy in which an affected fetus was found.


Subject(s)
Fetal Diseases/diagnosis , Leukodystrophy, Globoid Cell/diagnosis , Amniotic Fluid/analysis , Female , Fibroblasts/analysis , Galactosidases/analysis , Galactosylceramides/analysis , Hexosaminidases/analysis , Humans , Infant , Lactosylceramides/analysis , Leukodystrophy, Globoid Cell/congenital , Pregnancy
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