H J Vernon

Summary

Affiliation: Johns Hopkins University
Country: USA

Publications

  1. doi request reprint 6p25 microdeletion: white matter abnormalities in an adult patient
    Hilary J Vernon
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21205, USA
    Am J Med Genet A 161:1686-9. 2013
  2. pmc Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria
    H 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

Detail Information

Publications2

  1. doi request reprint 6p25 microdeletion: white matter abnormalities in an adult patient
    Hilary 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...
  2. pmc Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria
    H 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...