Article
Identification of patients with Fabry disease using routine pathology results: PATHFINDER (eGFR) study.
International journal of clinical practice - 1 Feb 2021
Reynolds Tim M, Tylee Karen L, Booth Kathryn L, Wierzbicki Anthony S
Abstract excerpt
AIMS: Lysosomal α-galactosidase A deficiency (Fabry disease (FD)) was considered an X-linked recessive disorder but is now viewed as a variable penetrance dominant trait. The prevalence of FD is 1 in 40 000-117 000 but the ascertainment of late-onset cases and degree of female penetrance makes this unclear. Its prevalence in the general population, especially in patients with abnormal renal function is unclear....
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