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G K Brown Selected Research

Pyruvate Dehydrogenase Complex Deficiency Disease

3/2008A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons.
9/2006Pyruvate dehydrogenase E3 binding protein (protein X) deficiency.
10/2004Pyruvate dehydrogenase deficiency presenting as dystonia in childhood.
1/2000Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.

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G K Brown Research Topics

Disease

4Pyruvate Dehydrogenase Complex Deficiency Disease
03/2008 - 01/2000
3Lactic Acidosis
09/2006 - 01/2000
2Cytochrome-c Oxidase Deficiency
10/2011 - 01/2004
2Mitochondrial Diseases (Mitochondrial Disease)
01/2005 - 01/2001
2Leigh Disease (Leigh's Disease)
01/2004 - 06/2001
1Neoplasms (Cancer)
06/2015
1Cysticercosis
03/2013
1Leukoencephalopathies
02/2009
1Dystonia (Limb Dystonia)
10/2004
1Epilepsy (Aura)
05/2000
1Renal Glycosuria
05/2000
1Glycogen Storage Disease (Glycogenosis)
05/2000
1Fanconi Syndrome (Syndrome, Fanconi)
05/2000
1Glucose-Galactose Malabsorption
05/2000
1Metabolic Diseases (Metabolic Disease)
01/2000

Drug/Important Bio-Agent (IBA)

3Pyruvic Acid (Pyruvate)IBA
09/2006 - 01/2000
3Oxidoreductases (Dehydrogenase)IBA
09/2006 - 01/2000
2Carrier Proteins (Binding Protein)IBA
09/2006 - 01/2004
2Electron Transport Complex IV (Cytochrome c Oxidase)IBA
01/2004 - 06/2001
17- O- (2,6- dideoxy- 2- fluorotalopyranosyl)daunomycinoneIBA
06/2015
1DNA (Deoxyribonucleic Acid)IBA
03/2013
1Glu Transfer RNAIBA
10/2011
1EnzymesIBA
02/2009
1Nonsense Codon (Nonsense Mutation)IBA
03/2008
1Dihydrolipoamide Dehydrogenase (Lipoamide Dehydrogenase)IBA
09/2006
1Lactic Acid (Lactate)FDA LinkGeneric
01/2005
1Levodopa (L Dopa)FDA LinkGeneric
10/2004
1Carbidopa (Lodosyn)FDA LinkGeneric
10/2004
1Pyruvate Dehydrogenase Complex (Dehydrogenase Complex, Pyruvate)IBA
01/2004
1Proteins (Proteins, Gene)FDA Link
01/2004
1RNA Splice SitesIBA
01/2004
1Surf-1 proteinIBA
06/2001
1Mitochondrial DNA (mtDNA)IBA
01/2001
1Glucose (Dextrose)FDA LinkGeneric
05/2000
1Sodium-Glucose Transport ProteinsIBA
05/2000
1pyruvate dehydrogenase E1alpha subunitIBA
01/2000