Education

Medical School Case Western Reserve University (1977)
Internship Johns Hopkins School of Medicine (1978), Pediatrics
Residency Johns Hopkins School of Medicine (1980), Pediatrics
Fellowship Johns Hopkins School of Medicine (1982), Genetics

Specialty Areas

Clinical Interest

  • Metabolic Syndrome

Research Interest

  • Management of pediatric patients with inborn errors of metabolism.
  • Studies in genetic disorders of fatty-acid metabolism.

Publications

Featured Publications LegendFeatured Publications

Enzyme replacement therapy in Mucopolysaccharidosis I.
Kakkis ED, Muenzer J, tiller GE, Waber LJ, Belmont J, Passage M, Izykowski B, Phillips J, Doroshow R, Walot I, Hoft R, Neufeld EF. New Eng J Med 2001 344 182-188
Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonemia.
Praphanphoj V, Boydjiev SA, Waber LJ, Brusilow SW, Geraghty MT. J Inherit Metab Dis 2000 23 129-136

Honors & Awards

  • Outstanding Teacher, First Year Medical School Class
    University of Texas Southwestern Medical Center (1999)
  • Phi Beta Kappa
    Franklin & Marshall College (1970)
  • CSUI-ANL Honors Program
    Argonne National Laboratory (1969)
  • College Scholar
    Franklin & Marshall College (1966)

Professional Associations/Affiliations

  • American Society of Human Genetics