ホモシスチン尿症
1. HomocystinuriaHomocystinuria, also known as cystathionine beta synthase deficiency or CBS deficiency, is an inherited disorder of the metabolism of the amino acid methionine, often involving cystathionine beta synthase. It is an inherited autosomal recessive trait, which means a child needs to inherit a copy of the defective gene from each parent to be affected.
Read “Homocystinuria” on English Wikipedia
Read “ホモシスチン尿症” on Japanese Wikipedia
Read “Homocystinuria” on DBpedia
Read “Homocystinuria” on English Wikipedia
Read “ホモシスチン尿症” on Japanese Wikipedia
Read “Homocystinuria” on DBpedia
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