Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene

Agricultural and Biological Sciences

• Frameshift Mutation 100%
• Mutation 66%
• Phenotype 66%
• Urine 33%
• RNA 33%
• Genotype-Phenotype Correlation 33%
• Dried Blood Spot 33%

Medicine and Dentistry

• Organic Acidemia 100%
• Glutaryl Coenzyme A Dehydrogenase 66%

Biochemistry, Genetics and Molecular Biology

• Glutaryl-CoA Dehydrogenase 66%
• Genotype Phenotype Correlation 33%
• Magnet 33%