Segmental uniparental disomy of chromosome 4 in a patient with methylmalonic acidemia

BACKGROUND: Methylmalonic acidemia (MMA) is an autosomal recessive genetic disorder involving the metabolism of organic acids. METHODS: Here, we report the case of a patient who developed acute metabolic crisis after vaccination and was diagnosed with cblA type MMA after hospitalization. RESULTS: Fu...

Descripción completa

Detalles Bibliográficos
Autores principales: Chen, Min, Hao, Hu, Xiong, Hui, Cai, Yao, Ma, Fei, Shi, Congcong, Xiao, Xin, Li, Sitao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Clinical Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6978399/
https://www.ncbi.nlm.nih.gov/pubmed/31793236
http://dx.doi.org/10.1002/mgg3.1063

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6978399/
https://www.ncbi.nlm.nih.gov/pubmed/31793236
http://dx.doi.org/10.1002/mgg3.1063

Ejemplares similares