A Fabry's disease heterozygote with a new mutation: biochemical, ultrastructural, and clinical investigations.

doi:10.1136/jmg.27.5.303

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Article

A Fabry's disease heterozygote with a new mutation: biochemical, ultrastructural, and clinical investigations.

Journal of medical genetics - 1 May 1990

Hasholt L, Sørensen S A, Wandall A, Andersen E B, Arlien-Søborg P

Abstract excerpt

A Fabry heterozygote with early clinical manifestations of this X linked disorder is described. Her symptoms, including febrile attacks, arthralgia, abdominal pain, and neurological signs, were characteristic of Fabry's disease hemizygotes. The neurological findings were compatible with a brain s...

Topics

Adolescent
Cells, Cultured
Fabry Disease
Female
Fibroblasts
Heart Rate
Heterozygote
Humans
Lymphocytes
Mutation
alpha-Galactosidase

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