Prenatal diagnosis of methymalonic aciduria and homocystinuria cblC type using DNA analysis
Methylmalonic aciduria (MMA) and homocystinuria, cblC type is the most frequent inborn error of vitamin B12. CblC patients present with a heterogeneous clinical picture. To date, the early prenatal diagnosis of MMA and homocystinuria, cblC type is performed by determination of methylmalonic acid and...
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Hygeia Press di Corridori Marinella,
2015-12-01T00:00:00Z.
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