S Afr Med J. 1978 Jul 22;54(4):168-70.

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

Petersen EM, Nelson MM, Thomson AJ, Coetzee EJ, Besley GT, Bain AD.

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.

PMID:: 567850; [PubMed - indexed for MEDLINE]

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The use of natural and artifical substrates in the prenatal diagnosis of Krabbe's disease. [J Inherit Metab Dis. 1978]
The use of natural and artifical substrates in the prenatal diagnosis of Krabbe's disease.
Besley GT. J Inherit Metab Dis. 1978; 1(3):115-8.
Globoid cell (Krabbe's) leukodystrophy: heterozygote detection in cultured skin fibroblasts. [Am J Hum Genet. 1973]
Globoid cell (Krabbe's) leukodystrophy: heterozygote detection in cultured skin fibroblasts.
Farrell DF, Percy AK, Kaback MM, McKhann GM. Am J Hum Genet. 1973 Nov; 25(6):604-9.
Prenatal enzymatic diagnosis and exclusion of Krabbe's disease (globoid-cell leukodystrophy) using chorionic villi in five risk pregnancies. [Hum Genet. 1987]
Prenatal enzymatic diagnosis and exclusion of Krabbe's disease (globoid-cell leukodystrophy) using chorionic villi in five risk pregnancies.
Harzer K, Hager HD, Tariverdian G. Hum Genet. 1987 Dec; 77(4):342-4.
Review [X-ray computed tomography and MRI in Krabbe's disease]. [J Radiol. 1988]
Review [X-ray computed tomography and MRI in Krabbe's disease].
Winants D, Bernard C, Galloy MA, Hoeffel JC, Vidailhet M. J Radiol. 1988 Nov; 69(11):697-700.
Review [An adult patient with Krabbe's disease--the first case reported in Japan]. [Rinsho Shinkeigaku. 1993]
Review [An adult patient with Krabbe's disease--the first case reported in Japan].
Inatomi Y, Tomoda H, Itoh Y, Fujii N, Kobayashi T, Ohnishi A. Rinsho Shinkeigaku. 1993 Nov; 33(11):1188-94.

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