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Hong Cheul Lee

1 Article

Original Article

A case of homocystinuria.

Kang Seo Park, Kyu Sun Choi, Young Tack Jang, Hong Cheul Lee, Chun Hee Lee

Clin Exp Pediatr. 1991;34(4):566-572. Published online April 30, 1991

Homocystinuria caused by cystathionine B-synthetase deficiency is characterized biochemically by increased concentration of homocystine and methionine, decreased concentration of cystine in plasma and urine. The manifestation of this rare disorder include skeletal abnormalities, a high incidence of thromboembolism, ectopia lentis, and a high frequency of mental retardation. We experienced a case of homocystinuria in a 10-year-old female patient who had mental retarda- tion, ectopia lentis,...

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