Uroporphyrinogen synthetase in erythrocytes. Its diagnostic value in latent acute intermittent porphyria with special regard to the gene penetrance.
作者信息
With T K, Pedersen J S
出版信息
Dan Med Bull. 1981 Mar;28(1):27-34.
PMID:7238130
Abstract
摘要
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[Acute intermittent porphyria: uroporphyrinogen-I-synthetase activity in erythrocytes as a diagnostic index].
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[Letter: Determination of uroporphyrinogen I synthetase in intermittent acute porphyria. 7 cases].
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[Normal activity of uroporphyrinogen I synthase during an attack of acute intermittent porphyria].
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Erythrocyte uroporphyrinogen-I-synthetase activity in acute intermittent porphyria.
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[Uroporphyrinogen synthase in erythrocytes in acute intermittent porphyria: new pathobiochemical aspects (author's transl)].
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Erythrocyte uroporphyrinogen I synthase activity as an indicator of acute porphyria.
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Increased activity of porphobilinogen deaminase in erythrocytes during attacks of acute intermittent porphyria.
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引用本文的文献
1
Screening for latent acute intermittent porphyria: the value of measuring both leucocyte delta-aminolaevulinic acid synthase and erythrocyte uroporphyrinogen-1-synthase activities.
J Med Genet. 1982 Aug;19(4):271-6. doi: 10.1136/jmg.19.4.271.
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