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High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening
The classic phenotype of Fabry disease, X-linked α-galactosidase A (α-Gal A) deficiency, has an estimated incidence of ∼1 in 50,000 males. The recent recognition of later-onset variants suggested that this treatable lysosomal disease is more frequent. To determine the disease incidence, we undertook...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The American Society of Human Genetics
2006
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1474133/ https://ncbi.nlm.nih.gov/pubmed/16773563 |
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