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Krabbe's disease in an infant and her fetal sibling. A case report.

Authors :
Petersen EM
Nelson MM
Thomson AJ
Coetzee EJ
Besley GT
Bain AD
Source :
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde [S Afr Med J] 1978 Jul 22; Vol. 54 (4), pp. 168-70.
Publication Year :
1978

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.

Details

Language :
English
ISSN :
0256-9574
Volume :
54
Issue :
4
Database :
MEDLINE
Journal :
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde
Publication Type :
Academic Journal
Accession number :
567850