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本文引用的文献

1
Effect of sample collection on alpha-galactosidase A enzyme activity measurements in dried blood spots on filter paper.样本采集对滤纸上干血斑中α-半乳糖苷酶A酶活性测量的影响。
Clin Chim Acta. 2009 May;403(1-2):159-62. doi: 10.1016/j.cca.2009.02.008. Epub 2009 Feb 24.
2
Rapid diagnostic testing procedures for lysosomal storage disorders: alpha-glucosidase and beta-galactosidase assays on dried blood spots.溶酶体贮积症的快速诊断检测程序：干血斑上的α-葡萄糖苷酶和β-半乳糖苷酶测定
Clin Chim Acta. 2009 Apr;402(1-2):38-41. doi: 10.1016/j.cca.2008.12.006. Epub 2008 Dec 13.
3
Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders.用于溶酶体贮积症新生儿筛查的质量控制干血斑材料的开发与评估
Clin Chem. 2009 Jan;55(1):158-64. doi: 10.1373/clinchem.2008.111864. Epub 2008 Nov 6.
4
Treating lysosomal storage disorders: current practice and future prospects.治疗溶酶体贮积症：当前实践与未来前景
Biochim Biophys Acta. 2009 Apr;1793(4):737-45. doi: 10.1016/j.bbamcr.2008.08.009. Epub 2008 Sep 5.
5
Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots.通过荧光法检测干血斑中α-葡萄糖苷酶活性对晚发型庞贝病进行快速诊断。
Mol Genet Metab. 2007 Apr;90(4):449-52. doi: 10.1016/j.ymgme.2006.12.006. Epub 2007 Jan 31.
6
Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders.通过串联质谱法对干血斑中的酶进行直接多重检测用于溶酶体贮积症的新生儿筛查。
J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):397-404. doi: 10.1007/s10545-006-0265-4.
7
Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases.针对选定的遗传性溶酶体贮积病患者检测，对干血滤纸样本进行十二种不同的酶检测。
Clin Chim Acta. 2006 Oct;372(1-2):98-102. doi: 10.1016/j.cca.2006.03.029. Epub 2006 May 18.
8
Immunoquantification of alpha-galactosidase: evaluation for the diagnosis of Fabry disease.α-半乳糖苷酶的免疫定量分析：用于法布里病诊断的评估
Clin Chem. 2004 Nov;50(11):1979-85. doi: 10.1373/clinchem.2004.037937. Epub 2004 Sep 13.
9
Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper.II型糖原贮积病：滤纸干血斑中的酶学筛查
Clin Chim Acta. 2004 Sep;347(1-2):97-102. doi: 10.1016/j.cccn.2004.04.009.
10
Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.用于新生儿筛查的干血斑中溶酶体酶的直接多重检测
Clin Chem. 2004 Oct;50(10):1785-96. doi: 10.1373/clinchem.2004.035907. Epub 2004 Aug 3.

使用干血斑样本的溶酶体酶活性参考值——巴西的经验。

Reference values for lysosomal enzymes activities using dried blood spots samples - a Brazilian experience.

机构信息

Department of Pediatrics - Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.

出版信息

Diagn Pathol. 2010 Sep 29;5:65. doi: 10.1186/1746-1596-5-65.

DOI:10.1186/1746-1596-5-65
PMID:20920262
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2955652/
Abstract

BACKGROUND

Lysosomal storage diseases (LSD) are inherited disorders caused by deficiency of lysosomal enzymes in which early diagnosis is essential to provide timely treatment. This study reports interval values for the activity of lysosomal enzymes that are deficient in Mucopolysaccharidosis type I, Fabry, Gaucher and Pompe disease, using dried blood spots on filter paper (DBS) samples in a Brazilian population.

RESULTS

Reference activity values were obtained from healthy volunteers samples for alpha-galactosidase A (4.57 ± 1.37 umol/L/h), beta-glucosidase (3.06 ± 0.99 umol/L/h), alpha-glucosidase (ratio: 13.19 ± 4.26; % inhibition: 70.66 ± 7.60), alpha-iduronidase (3.45 ± 1.21 umol/L/h) and beta-galactosidase (14.09 ± 4.36 umol/L/h).

CONCLUSION

Reference values of five lysosomal enzymes were determined for a Brazilian population sample. However, as our results differ from other laboratories, it highlights the importance of establishing specific reference values for each center.

摘要

背景

溶酶体贮积症（LSD）是由溶酶体酶缺乏引起的遗传性疾病，早期诊断对于及时治疗至关重要。本研究报告了使用滤纸干血斑（DBS）样本在巴西人群中缺乏黏多糖贮积症 I 型、法布里病、戈谢病和庞贝病的溶酶体酶活性的间隔值。

结果

从健康志愿者样本中获得了α-半乳糖苷酶 A（4.57 ± 1.37 umol/L/h）、β-葡萄糖苷酶（3.06 ± 0.99 umol/L/h）、α-葡萄糖苷酶（比值：13.19 ± 4.26；%抑制：70.66 ± 7.60）、α-艾杜糖苷酶（3.45 ± 1.21 umol/L/h）和β-半乳糖苷酶（14.09 ± 4.36 umol/L/h）的参考活性值。

结论

为巴西人群样本确定了五种溶酶体酶的参考值。然而，由于我们的结果与其他实验室不同，因此强调了为每个中心建立特定参考值的重要性。