Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations
Propionic acidemia (PA) is an inherited metabolic disease caused by the deficiency of one of the four biotin-dependent enzymes propionyl-CoA carboxylase (PCC), and is characterized by coma and death in unrecognized patients, additionally late diagnosis leads to severe developmental delay and neurol...
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| Principais autores: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Hacettepe University Institute of Child Health
2019-06-01
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| Colecção: | The Turkish Journal of Pediatrics |
| Assuntos: | |
| Acesso em linha: | https://turkjpediatr.org/article/view/699 |
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