Wilson's disease (WD) is an autosomal recessive disorder of copper transport, related to mutations of the ATP7B gene (McKusick 277900). Here we report a new case of WD in which a rare mutation, Leu492Ser expressed for the first time in homozygosity, is associated with neurological presentation of the disease and arylsulfatase A pseudodeficiency.
Battisti, C., Dotti, M.T., Loudianos, G., Dessì, V., Battistini, S., Amato, T., et al. (2004). Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence?. NEUROLOGICAL SCIENCES, 25(1), 18-20 [10.1007/s10072-004-0220-z].
Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence?
BATTISTI C.;DOTTI M. T.;BATTISTINI S.;RUFA A.;FEDERICO A.
2004-01-01
Abstract
Wilson's disease (WD) is an autosomal recessive disorder of copper transport, related to mutations of the ATP7B gene (McKusick 277900). Here we report a new case of WD in which a rare mutation, Leu492Ser expressed for the first time in homozygosity, is associated with neurological presentation of the disease and arylsulfatase A pseudodeficiency.
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https://hdl.handle.net/11365/25153
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