Human defects of the pyruvate dehydrogenase complex
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Publisher
Birkhäuser Basel
Link
http://link.springer.com/content/pdf/10.1007/978-3-0348-8981-0_18.pdf
Reference78 articles.
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2. Blass, J.P., Avigan, J. and Uhlendorf, B.W. (1970) A defect in pyruvate decarboxylase in a child with an intermittent movement disorder. J. Clin. Invest. 49: 423–432.
3. Brown, G.K., Haan, E.A., Kirby, D.M., Scholem, R.D., Wraith, J.E., Rogers, J.G. and Danks, D.M. (1988) “Cerebral” lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis. Eur. J. Pediatr. 147: 10–14.
4. Brown, R.M., Dahl, H.H.M. and Brown, G.K. (1989a) X-chromosome localization of the functional gene for the E1α subunit of the human pyruvate dehydrogenase complex. Genomics 4: 174–181.
5. Brown, G.K., Brown, R.M., Scholem, R.D., Kirby, D.M. and Dahl, H.H.M. (1989b) The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency. Ann. N.Y. Acad. Sci. 573: 360–368.
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