Measurement of cystine in granulocytes using liquid chromatography-tandem mass spectrometry

Gahl, 2001, Cystinosis: a disorder of lysosomal membrane transport, 5086 Cherqui, 2001, The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif, J. Biol. Chem., 13314, 10.1074/jbc.M010562200 Kalazis, 2001, Cystinosin, the protein defective in cystinosis, is a H+ driven lysosomal cystine transporter, EMBO J., 20, 5940, 10.1093/emboj/20.21.5940 Gahl, 2002, Cystinosis, N. Engl. J. Med., 347, 111, 10.1056/NEJMra020552 Oshima, 1974, Binding assays for amino acids: the utilization of a cystine binding protein from Escherichia coli for the determination of acid-soluble cystine in small physiological samples, J. Biol. Chem., 249, 6033, 10.1016/S0021-9258(19)42214-X B. Chadefaux-Vekemans, White cell cystine group: guideline no. 2. Polymorphonuclear leucocyte preparation. BIMDG bulletin, Spring 2001/WCYS compiled.doc. Lowry, 1951, Protein measurement with the folin phenol reagent, J. Biol. Chem., 193, 265, 10.1016/S0021-9258(19)52451-6 Smolin, 1987, An improved method for heterozygote detection of cystinosis using polymorphonuclear leucocytes, Am. J. Hum. Genet., 41, 266 Kamoun, 1999, Measurement of cystine in granulocytes and leucocytes: methodological aspects, 86 Bonfiglio, 1999, The effects of sample preparation methods on the variability of the electrospray ionization response for model drug compounds, Rapid. Commun. Mass. Spectrom., 13, 1175, 10.1002/(SICI)1097-0231(19990630)13:12<1175::AID-RCM639>3.0.CO;2-0 Gahl, 1987, Cysteamine therapy for children with nephropathic cystinosis, N. Engl. J. Med., 316, 971, 10.1056/NEJM198704163161602 Fowler B, Bielsky MC, Farrington Z. White cell cystine group. BIMDG bulletin, Spring 2001/WCYS compiled.doc. Schulman, 1970, Intracellular cystine content of leucocyte populations in cystinosis, Arch. Intern. Med., 125, 660, 10.1001/archinte.125.4.660 Wear, 2005, Measurement of cystine in urine by liquid chromatography-tandem mass spectrometry, Clin. Chem., 51, 787, 10.1373/clinchem.2005.047837