Measuring steroids from dried blood spots using tandem mass spectrometry to diagnose congenital adrenal hyperplasia
Tài liệu tham khảo
Speiser, 2003, Congenital adrenal hyperplasia, N. Engl. J. Med., 349, 776, 10.1056/NEJMra021561
Therrell, 2001, Newborn screening for congenital adrenal hyperplasia, Endocrinol. Metab. Clin. North Am., 30, 15, 10.1016/S0889-8529(08)70017-3
Speiser, 2010, Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline, J. Clin. Endocrinol. Metab., 95, 4133, 10.1210/jc.2009-2631
Falhammar, 2015, Biochemical and genetic diagnosis of 21-hydroxylase deficiency, Endocrine, 50, 306, 10.1007/s12020-015-0731-6
Speiser, P.W., Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Endocrinol Metab Clin North Am, 2001. 30(1): p. 31-59, vi.
Coulm, 2012, Efficiency of neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency in children born in mainland France between 1996 and 2003, Arch. Pediatr. Adolesc. Med., 166, 113, 10.1001/archpediatrics.2011.774
White, 2013, Optimizing newborn screening for congenital adrenal hyperplasia, J. Pediatr., 163, 10, 10.1016/j.jpeds.2013.02.008
Chace, 2010, Impact of second-tier testing on the effectiveness of newborn screening, Clin. Chem., 56, 1653, 10.1373/clinchem.2010.153494
Lacey, 2004, Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry, Clin. Chem., 50, 621, 10.1373/clinchem.2003.027193
Hammett-Stabler, 2010, The evolution of mass spectrometry in the clinical laboratory, Methods Mol. Biol., 603, 1, 10.1007/978-1-60761-459-3_1
Edelbroek, 2009, Dried blood spot methods in therapeutic drug monitoring: methods, assays, and pitfalls, Ther. Drug Monit., 31, 327, 10.1097/FTD.0b013e31819e91ce
Sharma, 2014, Dried blood spots: concepts, present status, and future perspectives in bioanalysis, Drug Test. Anal., 6, 399, 10.1002/dta.1646
Joanne V. Mei, J.R.A., Barbara W. Adam and W. Harry Hannon, Use of Filter Paper for the Collection and Analysis of Human Whole Blood Specimens. American Society for Nutritional Sciences, 2001. 131(5): p. 1631s-1636s.
Jopling, J., et al., Reference Ranges for Hematocrit and Blood Hemoglobin Concentration During the Neonatal Period: Data From a Multihospital Health Care System. Vol. 123. 2009. e333-7.
Deglon, 2012, Direct analysis of dried blood spots coupled with mass spectrometry: concepts and biomedical applications, Anal. Bioanal. Chem., 402, 2485, 10.1007/s00216-011-5161-6
Hicks, 2014, Precursor-to-product ratios reflect biochemical phenotype in congenital adrenal hyperplasia, Metabolomics, 10, 123, 10.1007/s11306-013-0558-1
Adam, 2011, The stability of markers in dried-blood spots for recommended newborn screening disorders in the United States, Clin. Biochem., 44, 1445, 10.1016/j.clinbiochem.2011.09.010
De Jesus, 2010, Improving and assuring newborn screening laboratory quality worldwide: 30-year experience at the Centers for Disease Control and Prevention, Semin. Perinatol., 34, 125, 10.1053/j.semperi.2009.12.003
Fingerhut, 2009, Stability of acylcarnitines and free carnitine in dried blood samples: implications for retrospective diagnosis of inborn errors of metabolism and neonatal screening for carnitine transporter deficiency, Anal. Chem., 81, 3571, 10.1021/ac8022235
Higashi, 2006, Procedure for increasing the detection responses of estrogens in LC-MS based on introduction of a nitrobenzene moiety followed by electron capture atmospheric pressure chemical ionization, Anal. Bioanal. Chem., 386, 658, 10.1007/s00216-006-0371-z
Matern, 2007, Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004–2007), J. Inherit. Metab. Dis., 30, 585, 10.1007/s10545-007-0691-y
Soldin, 2009, Steroid hormone analysis by tandem mass spectrometry, Clin. Chem., 55, 1061, 10.1373/clinchem.2007.100008