Carrier detection in glutaric aciduria type I using interleukin-2-dependent cultured lymphocytes
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01800015
Reference10 articles.
1. Adolph K, Kucey MT, Hodges SD, Carter RJ, Snyder FF (1988) Interleukin-2-dependent T lymphocytes for the diagnosis and investigation of inherited metabolic disorders.Clin Chim Acta 173: 147–156.
2. Amir N, Elpeleg ON, Shalev RS, Christensen E (1989) Glutaric aciduria type 1: Enzymatic and neuroradiologic investigations of two kindreds.J Pediatr 114: 983–989.
3. Besrat A, Polan CE, Henderson LM (1969) Mammalian metabolism of glutaric acid.J Biol Chem 244: 1461–1467.
4. Christensen E (1983) Improved assay of glutaryl-CoA dehydrogenase in cultured cells and liver: application to glutaric aciduria type I.Clin Chim Acta 129: 91–97.
5. Christensen E, Brandt NJ (1978) Studies on glutaryl-CoA dehydrogenase in leucocytes, fibroblasts and amniotic fluid cells. The normal enzyme and the mutant form in patients with glutaric aciduria.Clin Chim Acta 88: 267–276.
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort;Brain;2005-02-02
2. Proteomic basis for the possible use of lymphocytes for metabolic screenings;Amino Acids;2004-10
3. A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the island Lake variant of glutaric acidemia type I;Human Molecular Genetics;1995
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