Glycerol kinase deficiency: Residual activity explained by reduced transcription and enzyme conformation

Keyphrases

• Diacylglycerol Kinase 100%
• Pyruvate Kinase Deficiency 100%
• Residual Activity 100%
• Enzyme Conformation 100%
• Macromolecules 40%
• Kinase Activity 40%
• Cultured Fibroblasts 40%
• Clinical Data 20%
• Quantitative PCR 20%
• Glycerol 20%
• Exon 4 20%
• Alternative Splicing 20%
• Assay Method 20%
• Enzyme Assay 20%
• Clinical Symptoms 20%
• Missense mutation 20%
• Exon 3 20%
• Exon 20%
• Glycerol Content 20%
• Low Activity 20%
• Normal Activity 20%
• Specific Enzymes 20%
• Exon 2 20%
• Kinase Enzymes 20%
• Genetic Findings 20%
• Cryptic Exon 20%
• Residual Enzyme Activity 20%

Biochemistry, Genetics and Molecular Biology

• Transcription 100%
• Glycerol Kinase Deficiency 100%
• Glycerol Kinase 100%
• Enzyme Conformation 100%
• Exon 80%
• Enzyme 40%
• Macromolecule 40%
• Fibroblast 40%
• Genetics 20%
• Intron 20%
• Reverse Transcription Polymerase Chain Reaction 20%
• Enzyme Activity 20%
• Missense Mutation 20%
• Glycerol 20%
• Glycerol Blood Level 20%
• Enzyme Assay 20%
• Messenger RNA 20%