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Article

X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis.

International journal of molecular sciences - 17 Jul 2021

Viggiano Emanuela, Politano Luisa

Abstract excerpt

Anderson-Fabry disease is an X-linked inborn error of glycosphingolipid catabolism caused by a deficiency of α-galactosidase A. The incidence ranges between 1: 40,000 and 1:117,000 of live male births. In Italy, an estimate of incidence is available only for the north-western Italy, where it is of approximately 1:4000. Clinical symptoms include angiokeratomas, corneal dystrophy, and neurological, cardiac and...

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Identifiers

PMID: 34299283
DOI: 10.3390/ijms22147663
PMCID: PMC8304911

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