Article

Value of Amniotic Fluid Homocysteine Assay in Prenatal Diagnosis of Combined Methylmalonic Acidemia and Homocystinuria, Cobalamin C Type

2020-11-20

Abstract excerpt

<title>Abstract</title> <p>Background: Combined methylmalonic acidemia and homocystinuria, cobalamin C type (cblC defect) is the most common inborn error of cobalamin metabolism. Even with rapid diagnosis and treatment, the long-term outcome remains poor. A reliable method for the prenatal diagnosis of cblC defect is needed for parental decisions regarding continuation of pregnancies of cblC defect fetuses. <h4>R...

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Literature Corpus work: dcc87990-ceac-5990-bc39-dfc843b9ba7d
DOI: 10.21203/rs.3.rs-108786/v1

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