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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Main Authors: Antonietta Zappu (Author), Simona Incollu (Author), Francesca Chiappe (Author), Maria Barbara Lepori (Author), Georgios Loudianos (Author)
Format: Book
Published: Hygeia Press di Corridori Marinella, 2015-12-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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