Enzyme studies in biotin-responsive disorders

Author:

Bartlett K.,Ghneim H. K.,Stirk H. -J.,Wastell H.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference54 articles.

1. Baker, H., Frank, O., Matovitch, V., Pasher, I., Aaronson, S., Hunter, S. and Sabotka, H. A new assay method for biotin in blood, serum, urine and tissue.Analyt. Biochem. 3 (1962) 31–39

2. Bartlett, K., Bennett, M. J., Hill, R. P., Lashford, L. S., Pollitt, R. J. and Worth, H. G. J. Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting with life-threatening hypoglycaemia.J. Inher. Metab. Dis. 7 (1984a) 184

3. Bartlett, K., Ghneim, H. K., Stirk, J.-H., Dale, G. and Alberti, K. G. M. M. Pyruvate carboxylase deficiency.J. Inher. Metab. Dis. 7, Suppl. 1 (1984b) 74–78

4. Bartlett, K., Ghneim, H. K., Stirk, J.-H., Wastell, H. J., Sherratt, H. S. A. and Lconard, J. V. Enzyme studies in combined carboxylase deficiency.Proc. Natl. Acad. Sci. USA (In press) (1985)

5. Bartlett, K. and Gompertz, D. Combined carboxylase defects: biotin-responsiveness in cultured fibroblasts.Lancet 2 (1976) 803

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