- 6p25 microdeletion: white matter abnormalities in an adult patientHilary J Vernon
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21205, USA
Am J Med Genet A 161:1686-9. 2013..It emphasizes the importance of genetic testing in an adult with leukoencephalopathy and congenital anomalies...
- Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuriaH J Vernon
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Mol Genet Metab 100:229-33. 2010..Even in patients who were not considered to be responders, the introduction of sapropterin provided a tool to reconnect with patients and re-introduce beneficial dietary measures...