[Acute intermittent porphyria. Detection of asymptomatic carriers of the genetic defect].
作者信息
Grandchamp B, Grelier M, Nordmann Y
出版信息
Nouv Presse Med. 1975 Jun 14;4(24):1801-2.
PMID:1161481
Abstract
Measurement of uroporphyrinogen I synthetase activity in red blood cells indicates a 40-50 p.cent decrease in patients with intermittent acute porphyria (30 +/- 6 units) when compared to normal control subjects (50 +/- 8 units). This measurement makes relatively easy the detection of asymptomatic carriers of the genetic defect, as early as the first day of life.
摘要
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