Prenatal Diagnosis of Two Common Inborn Errors of Metabolism by Genetic and Mass Spectrometric Analysis of Amniotic Fluid

Methylmalonic acidaemia (MMA) and ornithine transcarbamylase deficiency (OTCD) are both intoxication-type inborn errors of metabolism (IEM). Presently, genetic testing is the primary method for prenatally diagnosing these diseases. However, some reports have demonstrated that mass spectrometry appro...

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Detalles Bibliográficos
Autores principales: Shi, Congcong, Li, Sitao, Gao, Yu, Deng, Zhirong, Hao, Hu, Xiao, Xin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8864115/
https://www.ncbi.nlm.nih.gov/pubmed/35223700
http://dx.doi.org/10.3389/fped.2022.824399

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8864115/
https://www.ncbi.nlm.nih.gov/pubmed/35223700
http://dx.doi.org/10.3389/fped.2022.824399

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