Prenatal diagnosis of inherited metabolic disorders by quantitation of characteristic metabolites in amniotic fluid: Facts and future
Author:
Publisher
Wiley
Subject
Genetics (clinical),Obstetrics and Gynecology
Reference41 articles.
1. Gas-liquid chromatographic determination of galactitol in amniotic fluid for possible use in prenatal diagnosis of galactosaemia
2. Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency
3. POSSIBILITY OF PRENATAL DIAGNOSIS OF ZELLWEGER SYNDROME
4. Prenatal diagnosis of glycerol-kinase deficiency associated with a DNA deletion on the short arm of the X-chromosome
5. Prenatal diagnosis of propionic acidemia: Amniocentesis at the 11th week of pregnancy
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1. Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria;PLOS ONE;2022-03-31
2. Amniotic Fluid Constituents, Cell Culture, and Neural Tube Defects;Genetic Disorders and the Fetus;2021-04-20
3. The state of treatment approach and diagnostics in Canavan disease with focus on the determination of N-acetylasparic acid;Chemical Papers;2016-12-09
4. Amniotic Fluid Constituents, Cell Culture, and Neural Tube Defects;Genetic Disorders and the Fetus;2015-11-23
5. Prenatal diagnosis of methylmalonic aciduria by measuring methylmalonic acid in dried amniotic fluid on filter paper using gas chromatography-mass spectrometry;Analytical and Bioanalytical Chemistry;2011-03-01
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