Article

Estimating the prevalence of late-onset Fabry disease in the US in 2024

2024-12-14

Abstract excerpt

Fabry disease is a rare lysosomal storage condition in which sphingolipid levels build up to harmful levels in various bodily organs, eventually leading to life-threatening complications such as stroke and kidney failure. Fabry disease is caused by rare pathogenic alleles in the GLA gene on chromosome X and may present as an early or late-onset disease depending on the identity of the causal allele and the severi...

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Literature Corpus work: f366ba71-f369-521f-972b-96322b6bf6d9
DOI: 10.1101/2024.12.13.24319001

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