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干血斑洗脱液中二氢蝶啶还原酶活性:一项国家筛查服务检测方法的自动化

Dihydropteridine reductase activity in eluates from dried blood spots: automation of an assay for a national screening service.

作者信息

Surplice I M, Griffiths P D, Green A, Leeming R J

机构信息

Clinical Chemistry Department, Children's Hospital, Birmingham, UK.

出版信息

J Inherit Metab Dis. 1990;13(2):169-77. doi: 10.1007/BF01799682.

DOI:10.1007/BF01799682
PMID:2116547
Abstract

We describe the automation, using a Cobas Bio centrifugal analyser, of a method for dihydropteridine reductase (DHPR) assay in eluates from dried blood spots. This is used as part of a routine screening service of neonates with hyperphenylalaninaemia in the United Kingdom. Automation reduced reagent volumes and analysis time by about 80% and improved the precision of the assay. Relating DHPR activity to haemoglobin concentration of the eluate further improved the precision of the assay and removed some differences in 'apparent' DHPR activity between samples from different countries and different age groups.

摘要

我们描述了使用Cobas Bio离心分析仪对干血斑洗脱液中二氢蝶啶还原酶(DHPR)检测方法的自动化过程。这一方法在英国作为高苯丙氨酸血症新生儿常规筛查服务的一部分使用。自动化使试剂用量和分析时间减少了约80%,并提高了检测的精密度。将DHPR活性与洗脱液的血红蛋白浓度相关联,进一步提高了检测的精密度,并消除了来自不同国家和不同年龄组样本之间“表观”DHPR活性的一些差异。

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Dihydropteridine reductase activity in eluates from dried blood spots: automation of an assay for a national screening service.干血斑洗脱液中二氢蝶啶还原酶活性:一项国家筛查服务检测方法的自动化
J Inherit Metab Dis. 1990;13(2):169-77. doi: 10.1007/BF01799682.
2
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Strategy for the screening of tetrahydrobiopterin deficiency among hyperphenylalaninaemic patients: 15-years experience.

本文引用的文献

1
Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by enzyme assays on dried blood spots.二氢蝶啶还原酶缺乏所致高苯丙氨酸血症:通过干血斑酶测定进行诊断。
Pediatrics. 1982 Sep;70(3):426-30.
2
Routine neonatal screening for phenylketonuria in the United Kingdom 1964-78. Medical Research Council Steering Committee for the MRC/DHSS Phenylketonuria Register.1964 - 1978年英国苯丙酮尿症的常规新生儿筛查。医学研究委员会/卫生与社会保障部苯丙酮尿症登记指导委员会。
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Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants.
高苯丙氨酸血症患者中四氢生物蝶呤缺乏症的筛查策略:15年经验
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Guthrie卡片上的血斑可用于高苯丙氨酸血症婴儿的遗传性四氢生物蝶呤缺乏症筛查。
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Determination of hemoglobin and its derivatives.血红蛋白及其衍生物的测定
Adv Clin Chem. 1965;8:141-87. doi: 10.1016/s0065-2423(08)60414-x.
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Differential diagnosis of tetrahydrobiopterin deficiency.四氢生物蝶呤缺乏症的鉴别诊断。
J Inherit Metab Dis. 1985;8 Suppl 1:34-8. doi: 10.1007/BF01800657.
6
[Measurement in samples of dry blood of dihydropteridine reductase and ratio of total biopterin in hyperphenylalaninemia and other neurological diseases].[高苯丙氨酸血症及其他神经疾病中干血样本中二氢蝶啶还原酶的测定及总生物蝶呤比值]
Arch Fr Pediatr. 1987;44 Suppl 1:649-54.
7
Inborn errors of pterin metabolism.
Annu Rev Nutr. 1988;8:185-209. doi: 10.1146/annurev.nu.08.070188.001153.