Author:
Jakobs C.,Smit L. M. E.,Kneer J.,Michael T.,Gibson K. M.
Subject
Genetics (clinical),Genetics
Reference9 articles.
1. De Vivo, D. C., Gibson, K. M., Resor, L. D., Steinschneider, M., Aramaki, S. and Cote, L. 4-Hydroxybutyric acidemia: Clinical features, pathogenetic mechanisms and treatment strategies.Ann. Neurol. 24 (1988) 304A
2. Gibson, K. M., Sweetman, L., Nyhan, W. L., Jakobs, C., Rating, D., Siemes, H. and Hanefeld, F. Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism.Clin. Chim. Acta 133 (1983) 33–42
3. Gibson, K. M., Goodman, S. I., Frerman, F. E. and Glasgow, A. M. Succinic semialdehyde dehydrogenase deficiency associated with combined 4-hydroxybutyric aciduria and dicarboxylic acidurias: potential for clinical misdiagnosis based on urinary organic acid profiling.J. Pediatr. 114 (1989a) 607–610
4. Gibson, K. M., Aramaki, S., Sweetman, L., Nyhan, W. L., De Vivo, D. C., Hodson, A. K. and Jakobs, C. Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria.J. Biomed. Env. Mass Spectr. 19 (1990) 89–93
5. Jakobs, C., Bojasch, M., Monch, E., Rating, D., Siemes, H. and Hanefeld, F. Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism.Clin. Chim. Acta 111 (1981) 169–178
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