Acute intermittent porphyria in childhood: a neglected diagnosis?
作者信息
Kreimer-Birnbaum M, Bannerman R M
出版信息
Arch Dis Child. 1975 Jun;50(6):494-5. doi: 10.1136/adc.50.6.494-a.
Abstract
摘要
相似文献
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Acute intermittent porphyria in childhood: a neglected diagnosis?儿童急性间歇性卟啉病：一种被忽视的诊断？
Arch Dis Child. 1975 Jun;50(6):494-5. doi: 10.1136/adc.50.6.494-a.
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Prenatal diagnosis of acute intermittent porphyria.急性间歇性卟啉病的产前诊断
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[Acute intermittent porphyria. Detection of asymptomatic carriers of the genetic defect].
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[Detection of intermittent acute porphyria using urosynthetase assay. Results of 2 years].[采用尿卟啉原合成酶测定法检测间歇性急性卟啉病。两年的结果]
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Detection of intermittent acute porphyria trait in children.儿童间歇性急性卟啉病特质的检测
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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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[Diagnostic criteria and neuropsychiatric leading symptoms in acute intermittent porphyria--results of a field study].[急性间歇性卟啉病的诊断标准及神经精神主要症状——一项现场研究的结果]
Verh Dtsch Ges Inn Med. 1976;82 Pt 1:668-71.
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[Uroporphyrinogen synthase in erythrocytes in acute intermittent porphyria: new pathobiochemical aspects (author's transl)].急性间歇性卟啉病红细胞中的尿卟啉原合酶：新的病理生化方面（作者译）
J Clin Chem Clin Biochem. 1978 Feb;16(2):111-8.
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Determination of delta-aminolaevulinic acid in biological fluids by gas-liquid chromatography with electron-capture detection.采用电子捕获检测气相色谱法测定生物体液中的δ-氨基乙酰丙酸。
Biochem J. 1984 May 1;219(3):883-9. doi: 10.1042/bj2190883.
本文引用的文献
1
Acute intermittent porphyria. A clinical, biochemical and family study.急性间歇性卟啉病。一项临床、生化及家族研究。
J Med. 1971;2(3):149-66.
2
Decreased red cell uroporphyrinogen I synthetase activity in intermittent acute porphyria.间歇性急性卟啉病中红细胞尿卟啉原I合成酶活性降低。
J Clin Invest. 1972 Oct;51(10):2530-6. doi: 10.1172/JCI107068.
3
Acute intermittent porphyria in childhood. A neglected diagnosis?儿童急性间歇性卟啉病。一种被忽视的诊断？
Arch Dis Child. 1974 May;49(5):404-6. doi: 10.1136/adc.49.5.404.
4
Assays for porphyrins, delta-aminolevulinic-acid dehydratase, and porphyrinogen synthetase in microliter samples of whole blood: applications to metabolic defects involving the heme pathway.全血微升样本中卟啉、δ-氨基乙酰丙酸脱水酶和卟啉原合成酶的检测：在涉及血红素途径的代谢缺陷中的应用
Proc Natl Acad Sci U S A. 1972 Sep;69(9):2381-5. doi: 10.1073/pnas.69.9.2381.
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