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Prevalence of propionic acidemia in China

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 deterioratio...

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Detalles Bibliográficos
Autores principales:	Zhang, Yixing, Peng, Chuwen, Wang, Lifang, Chen, Sitong, Wang, Junwei, Tian, Ziheng, Wang, Chuangong, Chen, Xiaoxin, Zhu, Suhong, Zhang, Guo-Fang, Wang, You
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10493020/ https://www.ncbi.nlm.nih.gov/pubmed/37689673 http://dx.doi.org/10.1186/s13023-023-02898-w

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