A fluorimetric assay for succinic semialdehyde dehydrogenase activity suitable for prenatal diagnosis of the enzyme deficiency
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF00711509
Reference17 articles.
1. Beutler E (1984) InRed Cell Metabolism. A Manual of Biochemical Methods. Orlando: Grune & Stratton.
2. Forestier F, Daffos F, Galacteros F, Bardakjian J, Rainaut M, Beuzard Y (1986) Hematological values of 163 normal fetuses between 18 and 30 weeks of gestation.Pediatr Res 20: 342?346.
3. Gibson KM, Sweetman L, Nyhan WL et al (1983) Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism.Clin Chim Acta 133: 33?42.
4. Gibson KM, Sweetman L, Jansen I et al (1985) Properties of succinic semialdehyde dehydrogenase in cultured human lymphoblasts.J Neurogenet 2: 111?122.
5. 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.
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