4-Hydroxybutyric aciduria: A new inborn error of metabolism. III. Enzymology and inheritance
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF03047383
Reference18 articles.
1. Ando, R., Gold, B. J., Bird, E. D. and Roth, R. H. Regional brain levels of γ-hydroxybutyrate in Huntington’s disease.J. Neurochem. 32 (1979) 617–622
2. Cash, C. D., Maitre, M. and Mandel, P. Purification from human brain and some properties of two NADPH linked aldehyde reductases which reduce succinic semialdehyde to 4-hydroxybutyrate.J. Neurochem. 33 (1979) 1169–1175
3. Divry, P., Baltassat, P., Rolland, M. O., Cotte, J., Hermier, M., Duran, M. and Wadman, S. K. A new patient with 4-hydroxybutyric aciduria, a possible defect of 4-aminobuty-rate metabolism.Clin. Chim. Acta 129 (1983) 303–309
4. Doherty, J. D. and Roth, R. H. Metabolism of γ-hydroxy-(l-14C) butyrate by rat brain: relationship to the Krebs cycle and metabolic compartmentation of amino acids.J. Neurochem. 30 (1978) 1305–1309
5. Gibson, K. M., Jansen, I., Sweetman, L., Nyhan, W. L., Rating, D., Jakobs, C. and Divry, P. 4-Hydroxybutyric aciduria: a new inborn error of metabolism. III. Enzymology and inheritance.J. Inher. Metab. Dis. 1 Suppl. 1 (1984) 95–96
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