Case report: An asymptomatic mother with an inborn error of cobalamin metabolism (cblC) detected through high homocysteine levels during prenatal diagnosis

BACKGROUND: The most common disorder of the intracellular cobalamin metabolism pathway is the combined methylmalonic acidemia and homocysteinemia, cblC type (cblC). There is a variation in its clinical spectrum ranging from severe neonatal-onset forms that are highly fatal to later-onset forms which...

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Detalles Bibliográficos
Autores principales: Liu, Yu-Peng, He, Ru-Xuan, Chen, Zhe-Hui, Kang, Lu-Lu, Song, Jin-Qing, Liu, Yi, Shi, Chun-Yan, Chen, Jun-Ya, Dong, Hui, Zhang, Yao, Li, Meng-Qiu, Jin, Ying, Qin, Jiong, Yang, Yan-Ling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Nutrition
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10213673/
https://www.ncbi.nlm.nih.gov/pubmed/37252234
http://dx.doi.org/10.3389/fnut.2023.1124387

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10213673/
https://www.ncbi.nlm.nih.gov/pubmed/37252234
http://dx.doi.org/10.3389/fnut.2023.1124387

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