Subject Areas on Research
- Complete correction of hyperphenylalaninemia following liver-directed, recombinant AAV2/8 vector-mediated gene therapy in murine phenylketonuria.
- Control of liver and brain aromatic amino-acid metabolism by phenylalanine hydroxylase.
- Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples.
- Diagnostic challenges of aminoacidopathies and organic acidemias in a developing country: a twelve-year experience.
- Experience with hyperphenylalaninemia in a developing country: unusual clinical manifestations and a novel gene mutation.
- How Darwinian reductionism refutes genetic determinism.
- Newborn screening for sickle cell disease and other hemoglobinopathies. Techniques' comparison and report of the North Carolina experience.
- Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry.