Late infantile metachromatic leukodystrophy in Israel.

doi:10.1016/0753-3322(94)90049-3

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Article

Late infantile metachromatic leukodystrophy in Israel.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie - 1 Jan 1994

Zlotogora J, Gieselman V, von Figura K, Zeigler M, Bach G

Abstract excerpt

Metachromatic Leukodystrophy (MLD) is a neurodegenerative disease in which the lysosomal enzyme, Aryl sulfatase A (ARSA) is deficient. The disease is inherited as an autosomal recessive trait and its frequency is estimated to be 1/40,000 live births. The gene of ARSA has been cloned and up to now...

Topics

Child
Ethnicity
Humans
Israel
Jews
Leukodystrophy, Metachromatic
Mutation

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