Application of a diagnostic methodology by quantification of 26:0 lysophosphatidylcholine in dried blood spots for Japanese newborn screening of X-linked adrenoleukodystrophy

Takemoto, 2002, Epidemiology of X-linked adrenoleukodystrophy in Japan, J. Hum. Genet., 47, 590, 10.1007/s100380200090 Mosser, 1993, Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABD transporters, Nature, 361, 726, 10.1038/361726a0 Mosser, 1994, The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein, Hum. Mol. Genet., 3, 265, 10.1093/hmg/3.2.265 van Roermund, 2008, The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters, FASEB J., 22, 4201, 10.1096/fj.08-110866 Ofman, 2010, The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy, EMBO Mol. Med., 2, 90, 10.1002/emmm.201000061 Moser, 1981, Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids, Neurology, 31, 1241, 10.1212/WNL.31.10.1241 Moser, 2007, X-linked adrenoleukodystrophy, Nat. Clin. Pract. Neurol., 3, 140, 10.1038/ncpneuro0421 Kemp, 2010, Biochemical aspects of X-linked adrenoleukodystrophy, Brain Pathol., 20, 831, 10.1111/j.1750-3639.2010.00391.x Engelen, 2012, X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management, Orphanet. J. Rare Dis., 7, 51, 10.1186/1750-1172-7-51 Peters, 2004, Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999, Blood, 104, 881, 10.1182/blood-2003-10-3402 Cartier, 2009, Hematopoietic stem cell gene therapy with a Lentiviral vector in X-linked adrenoleukodystrophy, Science, 326, 818, 10.1126/science.1171242 Moser, 1997, Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy, Brain, 120, 1485, 10.1093/brain/120.8.1485 Hubbard, 2006, Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings, Mol. Genet. Metab., 89, 185, 10.1016/j.ymgme.2006.05.001 Hubbard, 2009, Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method, Mol. Genet. Metab., 97, 212, 10.1016/j.ymgme.2009.03.010 Sandlers, 2012, Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: prospective newborn screening for X-linked adrenoleukodystrophy, Mol. Genet. Metab., 105, 416, 10.1016/j.ymgme.2011.11.195 Turgeon, 2015, Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy, Mol. Genet. Metab., 114, 46, 10.1016/j.ymgme.2014.11.013 Mashima, 2016, A selective detection of lysophosphatidylcholine in dried blood spots for diagnosis of adrenoleukodystrophy by LC-MS/MS, Mol. Genet. Metab. Rep., 7, 16, 10.1016/j.ymgmr.2016.02.007 Theda, 2014, Newborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible, Mol. Genet. Metab., 111, 55, 10.1016/j.ymgme.2013.10.019 Moser, 1999, Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls, Ann. Neurol., 45, 100, 10.1002/1531-8249(199901)45:1<100::AID-ART16>3.0.CO;2-U Kishimoto, 1980, Adrenoleukodystrophy: evidence that abnormal very long chain fatty acids of brain cholesterol esters are of exogenous origin, Biochem. Biophys. Res. Commun., 96, 69, 10.1016/0006-291X(80)91182-1