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Items: 1 to 20 of 137

1.

Improved analysis of C26:0-lysophosphatidylcholine in dried-blood spots via negative ion mode HPLC-ESI-MS/MS for X-linked adrenoleukodystrophy newborn screening.

Haynes CA, De Jesús VR.

Clin Chim Acta. 2012 Aug 16;413(15-16):1217-21. doi: 10.1016/j.cca.2012.03.026.

PMID:
22503909
2.

Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy.

Turgeon CT, Moser AB, Mørkrid L, Magera MJ, Gavrilov DK, Oglesbee D, Raymond K, Rinaldo P, Matern D, Tortorelli S.

Mol Genet Metab. 2015 Jan;114(1):46-50. doi: 10.1016/j.ymgme.2014.11.013.

PMID:
25481105
3.

Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: prospective newborn screening for X-linked adrenoleukodystrophy.

Sandlers Y, Moser AB, Hubbard WC, Kratz LE, Jones RO, Raymond GV.

Mol Genet Metab. 2012 Mar;105(3):416-20. doi: 10.1016/j.ymgme.2011.11.195.

PMID:
22197596
4.

Analysis of very long-chain fatty acids using electrospray ionization mass spectrometry.

Valianpour F, Selhorst JJ, van Lint LE, van Gennip AH, Wanders RJ, Kemp S.

Mol Genet Metab. 2003 Jul;79(3):189-96.

PMID:
12855224
5.
6.

Newborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible.

Theda C, Gibbons K, Defor TE, Donohue PK, Golden WC, Kline AD, Gulamali-Majid F, Panny SR, Hubbard WC, Jones RO, Liu AK, Moser AB, Raymond GV.

Mol Genet Metab. 2014 Jan;111(1):55-7. doi: 10.1016/j.ymgme.2013.10.019.

7.

The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy.

Ofman R, Dijkstra IM, van Roermund CW, Burger N, Turkenburg M, van Cruchten A, van Engen CE, Wanders RJ, Kemp S.

EMBO Mol Med. 2010 Mar;2(3):90-7. doi: 10.1002/emmm.201000061.

10.

Quantification of lysophosphatidylcholines and phosphatidylcholines using liquid chromatography-tandem mass spectrometry in neonatal serum.

Takatera A, Takeuchi A, Saiki K, Morisawa T, Yokoyama N, Matsuo M.

J Chromatogr B Analyt Technol Biomed Life Sci. 2006 Jun 21;838(1):31-6.

PMID:
16603422
11.

Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.

Corzo D, Gibson W, Johnson K, Mitchell G, LePage G, Cox GF, Casey R, Zeiss C, Tyson H, Cutting GR, Raymond GV, Smith KD, Watkins PA, Moser AB, Moser HW, Steinberg SJ.

Am J Hum Genet. 2002 Jun;70(6):1520-31.

13.

Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls.

Moser AB, Kreiter N, Bezman L, Lu S, Raymond GV, Naidu S, Moser HW.

Ann Neurol. 1999 Jan;45(1):100-10.

PMID:
9894883
14.

Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method.

Hubbard WC, Moser AB, Liu AC, Jones RO, Steinberg SJ, Lorey F, Panny SR, Vogt RF Jr, Macaya D, Turgeon CT, Tortorelli S, Raymond GV.

Mol Genet Metab. 2009 Jul;97(3):212-20. doi: 10.1016/j.ymgme.2009.03.010.

PMID:
19423374
15.

Diagnostic patterns of very-long-chain fatty acids in plasma of patients with X-linked adrenoleukodystrophy.

Paik MJ, Kim KR, Yoon HR, Kim HJ.

J Chromatogr B Biomed Sci Appl. 2001 Aug 25;760(1):149-57.

PMID:
11522057
16.

Validation of a dried blood spot LC-MS/MS approach for cyclosporin A in cat blood: comparison with a classical sample preparation.

Mohamed R, Mercolini L, Cuennet-Cosandey S, Chavent J, Raggi MA, Peyrou M.

J Pharm Biomed Anal. 2012 Jul;66:298-305. doi: 10.1016/j.jpba.2012.03.049.

PMID:
22522039
17.
18.
19.

Extraction and analysis of carnitine and acylcarnitines by electrospray ionization tandem mass spectrometry directly from dried blood and plasma spots using a novel autosampler.

Thompson JW, Zhang H, Smith P, Hillman S, Moseley MA, Millington DS.

Rapid Commun Mass Spectrom. 2012 Nov 15;26(21):2548-54. doi: 10.1002/rcm.6370.

PMID:
23008072
20.

A simple method to diagnose adrenoleukodystrophy using a dried blood spot on filter paper.

Nishio H, Kodama S, Yokoyama S, Matsuo T, Mio T, Sumino K.

Clin Chim Acta. 1986 Aug 30;159(1):77-82.

PMID:
3757269

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