A red cell enzyme method for the diagnosis of acute intermittent porphyria.
作者信息
Magnussen C R, Levine J B, Doherty J M, Cheesman J O, Tschudy D P
出版信息
Blood. 1974 Dec;44(6):857-68.
PMID:4429802
Abstract
摘要
相似文献
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A red cell enzyme method for the diagnosis of acute intermittent porphyria.一种用于诊断急性间歇性卟啉病的红细胞酶法。
Blood. 1974 Dec;44(6):857-68.
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A simple method for measuring erythrocyte porphobilinogenase, and its use in the diagnosis of acute intermittent porphyria.一种测定红细胞胆色素原酶的简单方法及其在急性间歇性卟啉病诊断中的应用。
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Red blood cell porphobilinogen deaminase in the evaluation of acute intermittent porphyria.红细胞胆色素原脱氨酶在急性间歇性卟啉病评估中的应用
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Normal erythrocyte uroporphyrinogen I synthase in a kindred with acute intermittent porphyria.患有急性间歇性卟啉症的家族中的正常红细胞尿卟啉原I合酶
Ann Intern Med. 1981 Aug;95(2):162-6. doi: 10.7326/0003-4819-95-2-162.
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[Acute intermittent porphyria. Detection of asymptomatic carriers of the genetic defect].
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[Uroporphyrinogen-I-synthetase in erythrocytes in acute intermittent porphyria].[急性间歇性卟啉病患者红细胞中的尿卟啉原-I-合成酶]
Acta Biol Med Ger. 1977;36(5-6):801-4.
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Family studies on the activity of uroporphyrinogen I synthase in diagnosis of acute intermittent porphyria.尿卟啉原I合成酶活性的家系研究在急性间歇性卟啉症诊断中的应用
Clin Sci Mol Med. 1978 Mar;54(3):251-6. doi: 10.1042/cs0540251.
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Erythrocyte uroporphyrinogen I synthase activity as an indicator of acute porphyria.红细胞尿卟啉原I合酶活性作为急性卟啉病的一项指标。
Ann Clin Lab Sci. 1989 Mar-Apr;19(2):128-32.
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Acute Hepatic Porphyria.急性肝性卟啉症。
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Direct assay of enzymes in heme biosynthesis for the detection of porphyrias by tandem mass spectrometry. Porphobilinogen deaminase.通过串联质谱法直接检测血红素生物合成中的酶以诊断卟啉症。胆色素原脱氨酶。
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Biochemical characterization of porphobilinogen deaminase-deficient mice during phenobarbital induction of heme synthesis and the effect of enzyme replacement.在苯巴比妥诱导血红素合成过程中，对胆色素原脱氨酶缺陷小鼠进行生化特性分析以及酶替代的效果。
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Correction of the biochemical defect in porphobilinogen deaminase deficient cells by non-viral gene delivery.通过非病毒基因递送纠正卟啉原脱氨酶缺陷细胞中的生化缺陷。
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delta-Aminolevulinic acid effects on neuronal and glial tumor cell lines.
Neurochem Res. 1993 Dec;18(12):1255-8. doi: 10.1007/BF00975044.
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Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping.
Hum Genet. 1993 Dec;92(6):549-53. doi: 10.1007/BF00420937.
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Characterization of the porphobilinogen deaminase deficiency in acute intermittent porphyria. Immunologic evidence for heterogeneity of the genetic defect.急性间歇性卟啉病中胆色素原脱氨酶缺乏的特征。遗传缺陷异质性的免疫学证据。
J Clin Invest. 1981 Jul;68(1):1-12. doi: 10.1172/jci110223.
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Rare structural variants of human and murine uroporphyrinogen I synthase.人和鼠尿卟啉原I合酶的罕见结构变异体。
Proc Natl Acad Sci U S A. 1980 May;77(5):2848-52. doi: 10.1073/pnas.77.5.2848.
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Simultaneous determination of hydroxymethylbilane synthase and uroporphyrinogen III synthase in erythrocytes by high-performance liquid chromatography.高效液相色谱法同时测定红细胞中的羟甲基胆色素原合酶和尿卟啉原III合酶
Biochem J. 1983 Jul 1;213(1):85-8. doi: 10.1042/bj2130085.
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Delta-Aminolaevulinic acid and amino acid neurotransmitters.δ-氨基乙酰丙酸与氨基酸神经递质。
Mol Cell Biochem. 1981 Aug 11;38 Spec No(Pt 1):49-58. doi: 10.1007/BF00235687.
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