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Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review

28 May 2010

Abstract excerpt

Most lysosomal diseases (LD) are inherited as autosomal recessive traits, but two important conditions have X-linked inheritance: Fabry disease and Mucopolysaccharidosis II (MPS II). These two diseases show a very different pattern regarding expression on heterozygotes, which does not seem to be explained by the X-inactivation mechanism only. While MPS II heterozygotes are asymptomatic in most instances, in Fabry...

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PMID: 20509947
DOI: 10.1186/1750-1172-5-14

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