|1.||Eruslanov, Evgeniy B: 1 article (11/2009)|
|2.||Liu, Chen: 1 article (11/2009)|
|3.||Glushakova, Lyudmyla G: 1 article (11/2009)|
|4.||Ojano-Dirain, Carolyn: 1 article (11/2009)|
|5.||Stacpoole, Peter W: 1 article (11/2009)|
|6.||Srivastava, Arun: 1 article (11/2009)|
|7.||Lisankie, Matthew J: 1 article (11/2009)|
|8.||Zolotukhin, Irene: 1 article (11/2009)|
|9.||Qi, Zhao-Yue: 1 article (06/2007)|
|10.||Yang, Yan-Ling: 1 article (06/2007)|
02/01/2002 - "Both patients presented with delayed development and lactic acidosis, features that are also found in patients with the more common pyruvate dehydrogenase E1 alpha subunit deficiency; however, they both had significant residual enzyme activity in cultured fibroblasts and prolonged survival."
10/01/1993 - "Neurodevelopmental abnormalities and lactic acidosis in a girl with a 20-bp deletion in the X-linked pyruvate dehydrogenase E1 alpha subunit gene."
03/01/1989 - "Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift."
01/01/2004 - "Enlargement of the lateral ventricles and atrophy of the brain were documented ultrasonographically in utero at as early as 28th week of gestation in a female patient with lactic acidosis due to deficiency of the pyruvate dehydrogenase E1alpha subunit, demonstrating that the changes characteristic of this disease can occur antenatally. "
|2.||Infantile Spasms (West Syndrome)
|3.||Liver Neoplasms (Liver Cancer)
|4.||Leigh Disease (Leigh's Disease)
|2.||3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) (Alpha-Keto Acid Dehydrogenase)
|3.||Complementary DNA (cDNA)