Prevalence of propionic acidemia in China
Abstract Propionic acidemia (PA) is a rare autosomal recessive congenital disease caused by mutations in the PCCA or PCCB genes. Elevated propionylcarnitine, 2-methylcitric acid (2MCA), propionylglycine, glycine and 3-hydroxypropionate can be used to diagnose PA. Early-onset PA can lead to acute det...
Furkejuvvon:
| Váldodahkkit: | , , , , , , , , , , |
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| Materiálatiipa: | Artigo |
| Giella: | Inglês |
| Almmustuhtton: |
BMC
2023-09-01
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| Ráidu: | Orphanet Journal of Rare Diseases |
| Fáttát: | |
| Liŋkkat: | https://doi.org/10.1186/s13023-023-02898-w |
| Fáddágilkorat: |
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