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在一个大城市中通过血浆色谱法(斯克里弗)筛查遗传性代谢疾病。

Screening for inherited metabolic disease by plasma chromatography (Scriver) in a large city.

作者信息

Raine D N, Cooke J R, Andrews W A, Mahon D F

出版信息

Br Med J. 1972 Jul 1;3(5817):7-13. doi: 10.1136/bmj.3.5817.7.

Abstract

Before introducing a more comprehensive screen such as plasma chromatography, with its potential to detect 20 amino-acid disorders-an advantage over screening methods which detect only phenylketonuria-the greatly increased problems of organization and the effect on the community, midwives, paediatric services, and laboratory should be considered. The three years' experience in Birmingham showed a three-fold increase in cases detected and suggests criteria for further investigation and treatment.

摘要

在引入诸如血浆色谱分析这样更全面的筛查方法之前,应考虑到其组织方面会出现极大增加的问题以及对社区、助产士、儿科服务和实验室的影响。血浆色谱分析有可能检测出20种氨基酸紊乱疾病,这比仅能检测苯丙酮尿症的筛查方法更具优势。伯明翰三年的经验表明,检测出的病例增加了两倍,并提出了进一步调查和治疗的标准。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c59/1788502/9452d5d3ea09/brmedj02211-0016-a.jpg

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