Author:
Gibson K. M.,Jakobs C.,Ogier H.,Hagenfeldt L.,Eeg-Olofsson K. Edebol,Eeg-Olofsson O.,Aksu F.,Weber H. -P.,Rossier E.,Vollmer B.,Lehnert W.
Subject
Genetics(clinical),Genetics
Reference11 articles.
1. Brandt NJ, Christensen E, Brenoe E, Gibson KM (1992) Succinic semialdehyde dehydrogenase deficiency: treatment of a case with vigabatrin.Abstracts of the 30th Annual Symposium, Society for the Study of Inborn Errors of Metabolism, Leuven, Belgium, P 84.
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, De Vivo DC, Jakobs C (1989) Vigabatrin therapy in patient with succinic semialdehyde dehydrogenase deficiency.Lancet 334: 1105?1106.
4. 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.
5. Gibson KM, Lee CF, Chambliss KL et al (1991) 4-Hydroxybutyric aciduria: application of a fluorimetric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts.Clin Chim Acta 196: 219?222.
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