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  • Title: Methylmalonate excretion in a pregnancy at risk for methylmalonic acidaemia.
    Author: Bakker HD, van Gennip AH, Duran M, Wadman SK.
    Journal: Clin Chim Acta; 1978 Jun 15; 86(3):349-52. PubMed ID: 668126.
    Abstract:
    In a pregnant woman, who had given birth to a child with methylmalonic acidaemia previously, urinary methylmalonate was measured at various intervals in the second half of the pregnancy. A significant increase was observed towards term. The child proved to be affected. This procedure enabled the detection of an affected fetus in the third trimester of pregnancy. If a case of methylmalonic acidaemia is detected in this way, treatment can be started immediately after birth.
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