利用白细胞和鞘磷脂的显色类似物对A型和B型尼曼-匹克病进行诊断及携带者检测。 - Suppr

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超能文献

The diagnosis of type A and type B Niemann Pick disease and detection of carriers using leukocytes and a chromogenic analogue of sphingomyelin.

作者信息

Gal A E, Brady R O, Barranger J A, Pentchev P G

出版信息

Clin Chim Acta. 1980 May 21;104(1):129-32. doi: 10.1016/0009-8981(80)90143-6.

DOI:10.1016/0009-8981(80)90143-6

PMID:7389124

Abstract

摘要

相似文献

The diagnosis of type A and type B Niemann Pick disease and detection of carriers using leukocytes and a chromogenic analogue of sphingomyelin.利用白细胞和鞘磷脂的显色类似物对A型和B型尼曼-匹克病进行诊断及携带者检测。

Clin Chim Acta. 1980 May 21;104(1):129-32. doi: 10.1016/0009-8981(80)90143-6.

A practical chromogenic procedure for the detection of homozygotes and heterozygous carriers of Niemann-Pick disease.一种用于检测尼曼-匹克病纯合子和杂合子携带者的实用显色方法。

N Engl J Med. 1975 Sep 25;293(13):632-6. doi: 10.1056/NEJM197509252931304.

A micromethod for sphingomyelinase assay using a chromogenic artificial substrate. Its use in the diagnosis of Niemann-Pick disease.一种使用显色人工底物测定鞘磷脂酶的微量方法。其在尼曼-匹克病诊断中的应用。

Acta Paediatr Belg. 1979;32(4):253-8.

A micromethod for sphingomyelinase assay using a chromogenic artificial substrate: its use in the diagnosis of Niemann-Pick disease.一种使用显色人工底物的鞘磷脂酶检测微方法：其在尼曼-匹克病诊断中的应用。

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Quantitative evaluation of sphingomyelin and glucosylceramide using matrix-assisted laser desorption ionization time-of-flight mass spectrometry with sphingosylphosphorylcholine as an internal standard. Practical application to tissues from patients with Niemann-Pick disease types A and C, and Gaucher disease.以鞘氨醇磷酸胆碱为内标，使用基质辅助激光解吸电离飞行时间质谱对鞘磷脂和葡萄糖神经酰胺进行定量评估。在A型和C型尼曼-匹克病以及戈谢病患者组织中的实际应用。

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A fluorescence-based, high-throughput sphingomyelin assay for the analysis of Niemann-Pick disease and other disorders of sphingomyelin metabolism.一种基于荧光的高通量鞘磷脂测定法，用于分析尼曼-匹克病和其他鞘磷脂代谢紊乱。

Anal Biochem. 2002 Jul 1;306(1):115-23. doi: 10.1006/abio.2002.5686.

A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate.

J Inherit Metab Dis. 2005;28(5):733-41. doi: 10.1007/s10545-005-0105-y.

Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K.A型和B型尼曼-匹克病在临床和酶学方面均具有异质性：与Q292K突变相关的鞘磷脂酶缺乏症在实验室诊断中存在陷阱。

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Uptake and metabolism of radioactively labeled sphingomyelin in cultured skin fibroblasts from controls and patients with Niemann-Pick disease and other lysosomal storage diseases.来自对照个体以及患有尼曼-匹克病和其他溶酶体贮积病患者的培养皮肤成纤维细胞中放射性标记鞘磷脂的摄取与代谢

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