Pre- and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assays
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF00712016
Reference11 articles.
1. Chambliss KL, Gibson KM (1992) Succinic semialdehyde dehydrogenase from mammalian brain: subunit analysis using polyclonal antiserum.Int J Biochem 24: 1493?1499.
2. Chambliss KL, Lee CF, Ogier H, Rabier D, Jakobs C, Gibson KM (1993) Enzymatic and immunological demonstration of normal and defective succinic semialdehyde dehydrogenase activity in fetal brain, liver and kidney.J Inher Metab Dis 16: 523?526.
3. Gibson KM, Aramaki S, Sweetman L et al (1990) Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria.Biomed Environ Mass Spectrom 19: 89?93.
4. Gibson KM, Lee CF, Chambliss KL et al (1991) 4-Hydroxybutyric aciduria: application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts.Clin Chim Acta 196: 219?222 (letter).
5. Jakobs C, Ogier H, Rabier D, Gibson KM (1993a) Prenatal detection of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).Prenat Diagn 13: 150 (letter)
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