DNA diagnosis of pyruvate dehydrogenase deficiency in female patients with congenital lactic acidaemia
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF02435998
Reference26 articles.
1. Atkin BM, Utter MF, Weinberg MB (1979) Pyruvate carboxylase and phosphoenolpyruvate carboxykinase activity in leukocytes and fibroblasts from a patient with pyruvate carboxylase deficiency.Pediatr Res 13: 38–43.
2. Brown GK (1992) Pyruvate dehydrogenase E1α deficiency.J Inher Metab Dis 15: 625–633.
3. Brown GK, Haan EA, Kirby DM, et al (1988) Cerebral lactic acidosis; defects in pyruvate metabolism with profound brain damage andminimal systemic acidosis.Eur J Pediatr 147: 10–14.
4. Brown RM, Brown GK (1993) X chromosome inactivation and the diagnosis of X-linked disease in females.J Med Genet 30: 177–184.
5. Brown RM, Dahl H-HM, Brown GK (1989) X-chromosome localization of the functional gene for the E1α subunit of the human pyruvate dehydrogenase complex.Genomics 4: 174–181.
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