Research Interests:

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

Recent Publications:

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

For additional publications: Search PubMed

Education:

• Franklin and Marshall College Lancaster, Pennsylvania, A.B., Chemistry, 1970
• Case Western Reserve University Cleveland, Ohio, M.D., 1977
• Case Western Reserve University Cleveland, Ohio, Ph.D., Biochemistry, 1977
• Genetics Fellowship Division of Pediatric Genetics Department of Pediatrics Johns Hopkins Hospital Baltimore, MD. 1982

Professional Positions:

• 1989 - Present - Associate Professor of Pediatrics University of Texas Southwestern Medical Center
  • Medical Director of Metabolism Service Children's Medical Center of Dallas
• 1989 - 2001 - Physician Liaison for Medical Informatics Children's Medical Center of Dallas
• 1985 - 1989 - Chief, Division of Human Genetics Schneider Children's Hospital New Hyde Park, New York, Assistant Professor of Pediatrics SUNY Stony Brook
• 1982 - 1985 - Assistant Professor of Pediatrics, Division of Pediatric Genetics Johns Hopkins University Baltimore, Maryland
• 1980 -1982 - Genetics Fellowship, Department of Pediatrics, Johns Hopkins Hospital Baltimore, MD.
• 1977 -1980 - Internship and residency in Department of Pediatrics, Johns Hopkins Hospital Baltimore, MD.