Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: Dihydrolipoamide acetyltransferase (E2) deficiency
โ Scribed by Rosemary A. Head; Ruth M. Brown; Zarazuela Zolkipli; Raveen Shahdadpuri; Mary D. King; Peter T. Clayton; Garry K. Brown
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 257 KB
- Volume
- 58
- Category
- Article
- ISSN
- 0364-5134
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Previous studies in which quantitative immunofluorescenm was used have shown that certain biliary epithelial cells in liver with primary biliary cirrhosis show i n d levels of pyruvate dehydrogenase dihyddipoamide acetyltransferase compared with controls. "his study was designed to determine whether
## Abstract Prenatal depiction of brain dysgenesis in patients with pyruvate dehydrogenase complex (PDHc) deficiencies has been infrequently reported. As PDHc plays a critical role in the brain that obtains all of the energy from the aerobic oxidation of glucose, its deficiency is a severe inborn d