Spectrum of genetic mutations in methylmalonic aciduria among Iranian patients
Abstract Methylmalonic aciduria (MMA) is described by high methylmalonic acid concentrations in the blood and urine. This condition can be isolated or in combination with homocystinuria. While variants in the MMUT, MMAA, MMAB, MMADHC and MCEE genes contribute to the pathogenesis of the isolated form...
Na minha lista:
| Principais autores: | , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Portfolio
2025-05-01
|
| coleção: | Scientific Reports |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1038/s41598-025-01563-5 |
| Tags: |
Sem tags, seja o primeiro a adicionar uma tag!
|