Pyruvate dehydrogenase E1α deficiency
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01799619
Reference19 articles.
1. Booth RFG, Clark JB (1978) The control of pyruvate dehydrogenase in isolated brain mitochondria.J Neurochem 30: 1003–1008.
2. Brown GK, Haan EA, Kirby DM et al (1988) “Cerebral” lactic acidosis: defects in pyruvate metabolsim with profound brain damage and minimal systemic acidosis.Eur J Pedriatr 147: 10–14.
3. Brown GK, Brown RM, Scholem RD, Kirby DM, Dahl H-HM (1989) The clinical and biochemical spectrum of human pyruvate dehydrogenase deficiency.Ann NY Acad Sci 573: 360–368.
4. Brown RM, Dahl H-HM, Brown GK (1989) X-chromosome localisation of the functional gene for the E1α subunit of the human pyruvate dehydrogenase complex.Genomics 4: 174–181.
5. Brown RM, Fraser NJ, Brown GK (1990) Differential methylation of the hypervariable locus DXS255 on active and inactive X chromosomes correlates with the expression of a human X-linked gene.Genomics 7: 215–221.
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