排序方式: 共有4条查询结果,搜索用时 15 毫秒
1
1.
2.
Sanja Grkovic Rajko Nikolic Maja Djordjevic Ljubomir Stojanov Snezana Zivancevic-Simonovic Gordana Djordjevic-Denic Bozica Kecman 《Indian journal of clinical biochemistry : IJCB》2007,22(2):118-122
X-linked adrenoleukodistrophy is a severe neurodegenerative disorder with impaired very long chain fatty acid metabolism.
The disease associated ABCD1 gene encodes a peroxisomal membrane protein which belongs to the superfamily of ATP-binding cassette
transporters. We investigated eight male X-ALD patients diagnosed among 142 suspected patients referred for investigation.
Plasma levels of very long chain fatty acids were measured at our laboratory using capillary gas chromatography. Eight cases
of childhood X-ALD were diagnosed. This is the first published series of Serbian patients with X-ALD. In addition, diagnosis
identifies carriers, which could be benefit for genetic counselling and prenatal diagnosis. 相似文献
3.
This article describes an electromechanical unit which performs various mathematical operations occurring in the solution of differential equations by analog methods. 相似文献
4.
Sanja Grkovic Rajko Nikolic Maja Dordevic Ljubomir Stojanov 《Indian journal of clinical biochemistry : IJCB》2005,20(2):178-181
We propose a rapid, simple metodology for routine analysis of human urine to detect vanillylmandelic and homovanillic acid
related to neuroblastoma. The assay were specific capillary gas chromatography with flame ionization detection. In this methodology
an internal standard is used and the procedure involves ethyl ester formation without isolation of the compounds of interest.
The run time is 36 minutes. We also report quantitative results for urinary vanillylmandelic and homovanillic acid in neuroblastoma
patients, demonstrating the diagnostic value of this method. 相似文献
1