Examples include the use of high doses of pyridoxine (vitamin B6) in some patients with homocystinuria to boost the activity of the residual cystathione synthase enzyme, administration of biotin to restore activity of several enzymes affected by deficiency of biotinidase, treatment with NTBC in Tyrosinemia to inhibit the production of succinylacetone which causes liver toxicity, and the use of sodium benzoate to decrease ammonia build-up in urea cycle disorders.
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ACMG has an Official Journal of the American College of Medical Genetics, the Genetics in Medicine.
Dr. Bloomfield is married to Dr. Albert de la Chapelle, a geneticist and professor in the Department of Molecular Virology, Immunology and Medical Genetics at The Ohio State University and discoverer of XX male syndrome.
After completing an internship in Pediatrics at the Montreal Children's Hospital (1970–1971), he pursued postgraduate training in medical genetics and folate metabolism at the Massachusetts General Hospital under the supervision of John Littlefield and .
Born in Ochamchira, Abkhaz ASSR, Georgian SSR, Gvazava graduated Sukhumi Pedagogical Institute with a degree in biology in 1974 and continued his postgraduate training at the Institute of Medical Genetics in Moscow from 1976 to 1981.
Habiba Bouhamed Chaabouni is Professor of Medical Genetics at Tunis University.
Mrs Seemanova MD after whom the name of the syndrome was given, currently works at Motol Hospital, Prague, Czech Republic, as a Professor of medical genetics.