The impact of screening for propionic and methylmalonic acidaemia
The impact of screening for propionic and methylmalonic acidaemia
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DOI：
10.1007/s00431-003-1345-1
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发表时间：
2003-12-01
影响因子：
3.6
通讯作者：
Walter, JH
中科院分区：
文献类型：
--
作者：
Leonard, JV;Vijayaraghavan, S;Walter, JH
丙酸和甲基丙二酸血症的严重变异的结果并不好。患有这些疾病的患者丙酰卡尼汀浓度升高，并使用串联质谱仪检测这种化合物，有可能在新生期进行筛查。已经使用了各种标准来确定患者的身份，但到目前为止只有一小部分患者被诊断出来，一些患者被遗漏了。此外，许多人在筛查测试结果出来之前就已经提出了。结论：目前尚不清楚对于筛查计划中确定的患者，结果是否更好。
The outcome of the severe variants of propionic and methylmalonic acidaemia is not good. Patients with these disorders have increased concentrations of propionylcarnitine and using tandem mass spectrometry to detect this compound, it is possible to screen in the newborn period. Various criteria have been used to identify the patients but only a small number of patients have been diagnosed so far and some have been missed. Furthermore many will have already presented before the result of the screening test is available. Conclusion: It is not yet clear whether the outcome is better for those identified in screening programmes.