Caracterización fenotípica y molecular de una familia colombiana con fenilcetonuria

Keyphrases

• Phenylketonuria 100%
• Molecular Characterization 100%
• Phenotypic Characterization 100%
• Neurological Sequelae 40%
• Exon 40%
• Blood Samples 20%
• Urine Samples 20%
• Disease Sequelae 20%
• PAH Gene 20%
• High Performance Liquid 20%
• Early Recognition 20%
• Molecular Characteristics 20%
• Early Diagnosis 20%
• Clinical Characteristics 20%
• Consanguineous Family 20%
• Colorimetric Determination 20%
• Old Age 20%
• Genotype-phenotype Correlation 20%
• Informed Consent 20%
• Proper Management 20%
• Metabolic Disorders 20%
• Diagnosis Management 20%
• Thin Layer Chromatography 20%
• DNA Extraction 20%
• Clinical Variability 20%
• Effective Treatment 20%
• DNA Sequencing 20%
• Behavioral Disorders 20%
• Test Performance 20%
• Neurological Involvement 20%

INIS

• exons 100%
• blood 50%
• genotype 50%
• equipment 50%
• symptoms 50%
• urine 50%
• extraction 50%
• children 50%
• liquids 50%
• phenotype 50%
• thin-layer chromatography 50%
• pah 50%

Biochemistry, Genetics and Molecular Biology

• Cognition 20%