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

Frontiers in Nutrition(2023)

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摘要
Variable and nonspecific symptoms characterized the cblC type of methylmalonic acidemia combined with homocysteinemia. Both biochemical assays and mutation analysis are recommended as crucial complementary techniques.
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methylmalonic acidemia,homocysteinemia,asymptomatic,cblC type,prenatal diagnosis
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