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In 1964 he published in Science proof of the enzymatic defect in homocystinuria (cystathionine β-synthase deficiency). He made many more significant contributions in the homocysteine field, including the first description of homocystinuria and methylmalonic aciduria (CblC) due to a remethylating defect. A seminal study resulted in the 1985 paper in the American Journal of Human Genetics (cited over 800 times) describing the natural history of homocystinuria and proving the beneficial clinical response to pyridoxine for biochemical responders. Later work was on glycine N-methyl transferase and methionine adenosyl transferase deficiencies.
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