Screening, early neonatal diagnosis and prenatal diagnosis.
作者信息
Kuzemko J A
出版信息
J R Soc Med. 1986;79 Suppl 12(Suppl 12):2-5.
Abstract
摘要
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引用本文的文献
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Markedly elevated neonatal immunoreactive trypsinogen levels in the absence of cystic fibrosis gene mutations is not an indication for further testing.在无囊性纤维化基因突变的情况下，新生儿免疫反应性胰蛋白酶原水平显著升高并非进一步检查的指征。
Arch Dis Child. 2006 Mar;91(3):222-5. doi: 10.1136/adc.2005.081349. Epub 2005 Oct 21.
本文引用的文献
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Prenatal detection of intestinal obstruction: deficient amniotic fluid disaccharidases in affected fetuses.产前肠梗阻检测：患病胎儿羊水中二糖酶缺乏
Clin Genet. 1980 Sep;18(3):217-22. doi: 10.1111/j.1399-0004.1980.tb00875.x.
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Distinguishing homozygous and heterozygous cystic fibrosis fibroblasts from normal cells by differences in sodium transport.通过钠转运差异区分纯合子和杂合子囊性纤维化成纤维细胞与正常细胞。
N Engl J Med. 1981 Jan 1;304(1):1-5. doi: 10.1056/NEJM198101013040101.
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Assay of serum immunoreactive trypsin in dried blood spots and the early detection of cystic fibrosis.干血斑中血清免疫反应性胰蛋白酶检测与囊性纤维化的早期诊断
J Clin Pathol. 1981 Aug;34(8):906-10. doi: 10.1136/jcp.34.8.906.
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Cystic fibrosis screening by dried blood spot trypsin assay: results in 75,000 newborn infants.通过干血斑胰蛋白酶测定法进行囊性纤维化筛查：75000例新生儿的筛查结果
J Pediatr. 1983 Mar;102(3):383-7. doi: 10.1016/s0022-3476(83)80653-2.
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Prenatal diagnosis of cystic fibrosis using a monoclonal antibody specific for intestinal alkaline phosphatase.使用针对肠碱性磷酸酶的单克隆抗体对囊性纤维化进行产前诊断。
Prenat Diagn. 1984 Nov-Dec;4(6):421-6. doi: 10.1002/pd.1970040605.
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Acid hydrolases in sera and plasma from patients with cystic fibrosis.囊性纤维化患者血清和血浆中的酸性水解酶。
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