H J Vernon

Summary

Affiliation: Johns Hopkins University
Country: USA

Publications

  1. ncbi request reprint A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut (0) methylmalonic acidemia
    Hilary J Vernon
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, 733 N Broadway, BRB 529, Baltimore, MD, 21205, USA
    J Inherit Metab Dis 37:899-907. 2014
  2. ncbi request reprint Clinical laboratory studies in Barth Syndrome
    Hilary J Vernon
    Division of Metabolism, Kennedy Krieger Institute, USA McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA Electronic address
    Mol Genet Metab 112:143-7. 2014
  3. ncbi 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
  4. 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

Publications4

  1. ncbi request reprint A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut (0) methylmalonic acidemia
    Hilary J Vernon
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, 733 N Broadway, BRB 529, Baltimore, MD, 21205, USA
    J Inherit Metab Dis 37:899-907. 2014
    ..The biochemical parameters exhibited by this patient further define the whole body metabolism of methylmalonic acid in the setting of dialysis and subsequent combined liver/kidney transplant. ..
  2. ncbi request reprint Clinical laboratory studies in Barth Syndrome
    Hilary J Vernon
    Division of Metabolism, Kennedy Krieger Institute, USA McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA Electronic address
    Mol Genet Metab 112:143-7. 2014
    ....
  3. ncbi 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...
  4. 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...