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

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

Abstract 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. Resu...

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Bibliographic Details
Main Authors: Min Chen, Hu Hao, Hui Xiong, Yao Cai, Fei Ma, Congcong Shi, Xin Xiao, Sitao Li
Format: Article
Language:English
Published: Wiley 2020-01-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
metabolic crisis
methylmalonic acidemia
MMAA gene
segmental uniparental disomy
SNP array
Online Access:https://doi.org/10.1002/mgg3.1063

Internet

https://doi.org/10.1002/mgg3.1063

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