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出典:Wikipedia
出典:『Wikipedia』 (2011/06/17 06:50 UTC 版)
Fumarase deficiency (or fumaric aciduria), also known as "Polygamist down's", is an autosomal recessive metabolic disorder characterized by a deficiency of the enzyme fumarate hydratase, which is indicated by a build up of fumaric acid in the urine.
fumarase deficiency