Margretta R. Seashore

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Yale University
School of Medicine
Pediatrics
Yale University
School of Medicine
Genetics
Professor

Mailing Address

WWW 305
Yale University
New Haven, Connecticut
United States

Contact Information

Phone: (203) 785-4938
seashoremr@maspo3.mas.yale.edu

Qualifications

M.D., Yale University School of Medicine, 1965.
B.A., Yale University School of Medicine, 1961.
Fellowship, Yale University School of Medicine.

Expertise and Research Interests

Betaine therapy in Cblc: Two patients with the Cblc form of methylmalonic aciduria have been treated with betaine to reduce the degree of homocystinemia with the hope of decreasing the risk of vascular thrombosis. There is some evidence that development has improved since treatment started and no vascular complications have yet occurred. The second patient responded biochemically but continued to lag behind developmentally. He also developed hydrocephalus which was treated but died of ventricular obstruction. Another patient who was offered the opportunity to participate refused and has died of pulmonary vascular complications. These cases are being reported. One patient with cystathionine synthases deficiency is also being treated with betaine on this protocol (in collaboration with Dr. Joyce Fox, Long Island Jewish Hospital) along with dietary management. He is continuing to develop normally. One patient at Riley Children's Hospital, Indianapolis is being recruited for the study in collaboration with Dr. Rebecca Wappner.

Other Expertise

I wish to be contacted by interested students (medical, graduate or undergraduates) as a potential research mentor/thesis advisor.

Keywords

COS Keywords:

Biochemistry, Computer Applications, Thrombosis.

Additional Terms:

Clinical Genetics, Computer Applications, Inborn Errors of Metabolism.

Publications

  • Seashore MR, Tandem spectrometry in newborn screening., Curr Opin Pediatr, 10(6), 609-14, December 1998 Abstract
  • Novotny E J Jr, Avison M J, Herschkowitz N, Petroff O A, Prichard J W, Seashore M R, Rothman D L, In vivo measurement of phenylalanine in human brain by proton nuclear magnetic resonance spectroscopy., Pediatric Research, 37(2), 244-9, February 1995 Abstract
  • Seashore M R, Chromosomal abnormalities in the newborn period., Seminars In Perinatology, 17(5), 312-7, October 1993 Abstract
  • Seashore M R, Rinaldo P, Metabolic disease of the neonate and young infant., Seminars In Perinatology, 17(5), 318-29, October 1993 Abstract
  • Petty E M, Seashore M R, Braverman I M, Spiesel S Z, Smith L T, Milstone L M, Dermatosparaxis in children. A case report and review of the newly recognized phenotype [see comments], Archives of Dermatology, 129(10), 1310-5, October 1993 Abstract
  • Lin S P, Petty E M, Gibson L H, Inserra J, Seashore M R, Yang-Feng T L, Smallest terminal deletion of the long arm of chromosome 2 in a mildly affected boy., American Journal of Medical Genetics, 44(4), 500-2, 1 Nov 1992 Abstract
  • Smith L T, Wertelecki W, Milstone L M, Petty E M, Seashore M R, Braverman I M, Jenkins T G, Byers P H, Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen., American Journal of Human Genetics, 51(2), 235-44, August 1992 Abstract
  • Vockley J, Vockley C M, Lin S P, Tuchman M, Wu T C, Lin C Y, Seashore M R, Normal N-acetylglutamate concentration measured in liver from a new patient with N-acetylglutamate synthetase deficiency: physiologic and biochemical implications., Biochemical Medicine and Metabolic Biology, 47(1), 38-46, February 1992 Abstract
  • Seashore M R, Walsh-Vockley C, Introduction: new technologies for genetic and newborn screening., Yale Journal of Biology and Medicine, 64(1), 3-7, January 1991 Abstract
  • Seashore M R, Neonatal screening for inborn errors of metabolism: update., Seminars In Perinatology, 14(6), 431-8, December 1990 Abstract
  • Seashore M R, Prenatal diagnosis of hematologic disorders., Seminars In Perinatology, 14(5), 343-5, October 1990 Abstract
  • Long W S, Seashore M R, Siegel N J, Bia M J, Idiopathic Fanconi syndrome with progressive renal failure: a case report and discussion., Yale Journal of Biology and Medicine, 63(1), 15-28, January 1990 Abstract
  • Maher, JLR , SeashoreMR, and, Hajjaar FM, Translocation 5:6 Associated with Spontaneously Remitting Congenital Leukemia. Cancer Genetics and Cytogenetics. 81:38-41, 1995
  • Novotny Jr., E.J., Avison, M.L., Herschkowitz, N., Petroff, O.A.C., Prichard J.W., Seashore, M.R., and Rothman, D.L., In Vivo Measurement of Phenylalanine in Human Brain by Proton Nuclear Magnetic Resonance Spectroscopy. Pediatr Res 37: 244-249, 1995

Profile Details

Last Updated: 2/21/2000

COS Expertise ID #397033
Reference this profile directly: http://myprofile.cos.com/seashorm33