Inborn errors of amino acid metabolism – from underlying pathophysiology to therapeutic advances

Keyphrases

• Pathophysiology 100%
• Inborn Errors 100%
• Therapeutic Advances 100%
• Amino Acid Metabolism 100%
• Amino Acids 50%
• Gene Expression 25%
• Clinical Features 25%
• Clinical Management 25%
• Clinical Presentation 25%
• Management Strategy 25%
• Protein Synthesis 25%
• Cell Behavior 25%
• Genetic Defects 25%
• Cell Signaling 25%
• Energy Production 25%
• Signaling Genes 25%
• Diverse Groups 25%
• Cystathionine Synthase 25%
• Diagnostic Strategy 25%
• Catabolism 25%
• Homocystinuria 25%
• Disease Class 25%
• Ongoing Development 25%
• Phenylketonuria 25%
• Organic Molecules 25%
• Lysinuric Protein Intolerance 25%
• CBS Deficiency 25%
• Biochemical Perturbation 25%

Biochemistry, Genetics and Molecular Biology

• Amino Acid Metabolism 100%
• Amino Acids 50%
• Genetics 25%
• Cell Function 25%
• Signal Transduction 25%
• Gene Expression 25%
• Protein Biosynthesis 25%
• Synthase 25%
• Energy Yield 25%
• Anabolism 25%
• Cystathionine 25%
• Homocystinuria 25%
• Phenylketonuria 25%

Pharmacology, Toxicology and Pharmaceutical Science

• Disease 100%
• Amino Acid 100%
• Pathophysiology 100%
• Clinical Feature 16%
• Synthetase 16%
• Genetic Disorder 16%
• Cystathionine 16%
• Homocystinuria 16%
• Lysinuric Protein Intolerance 16%
• Phenylketonuria 16%