{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T13:20:18Z","timestamp":1760707218064},"reference-count":24,"publisher":"Oxford University Press (OUP)","issue":"11","license":[{"start":{"date-parts":[[2003,11,1]],"date-time":"2003-11-01T00:00:00Z","timestamp":1067644800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2003,11,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Background: The diagnosis and monitoring of severe combined immunodeficiency disease (SCID) attributable to adenosine deaminase (ADA) deficiency requires measurements of ADA, purine nucleoside phosphorylase (PNP), and S-adenosyl-l-homocysteine-hydrolase (SAHH) activity and of deoxyadenosine metabolites. We developed capillary electrophoresis (CE) methods for the detection of key diagnostic metabolites and evaluation of enzyme activities.<\/jats:p>\n               <jats:p>Methods: Deoxyadenosine metabolites were separated in 30 mmol\/L sodium borate\u201310 mmol\/L sodium dodecyl sulfate (pH 9.80) at 25 \u00b0C on a 60-cm uncoated capillary. For determination of enzyme activities, substrate\u2013product separation and measurements were carried out in 20 mmol\/L sodium borate (pH 10.00) at 25 \u00b0C on a 42-cm uncoated capillary.<\/jats:p>\n               <jats:p>Results: Deoxynucleotides and deoxyadenosine were readily detectable in erythrocytes and urine, respectively. Both methods were linear in the range 2\u2013500 \u03bcmol\/L (r &amp;gt;0.99). Intra- and interassay CV were &amp;lt;4%. Enzyme activities were linear with respect to sample amounts in the incubation mixture and to incubation time (r &amp;gt;0.99 for both). In erythrocytes from healthy individuals, mean (SD) ADA activity was 5619 (2584) nmol\/s per liter of packed cells. In erythrocytes of SCID patients at diagnosis, ADA activity was 56.9 (48.3) nmol\/s per liter of packed cells; SAHH activity was also much reduced. PNP activity was similar in patients and controls.<\/jats:p>\n               <jats:p>Conclusions: CE can be used to test ADA deficiency and enables rapid assessment of ADA expression in hematopoietic cells of SCID patients during therapy.<\/jats:p>","DOI":"10.1373\/clinchem.2003.021576","type":"journal-article","created":{"date-parts":[[2004,2,24]],"date-time":"2004-02-24T01:44:46Z","timestamp":1077587086000},"page":"1830-1838","source":"Crossref","is-referenced-by-count":35,"title":["Capillary Electrophoresis in Diagnosis and Monitoring of Adenosine Deaminase Deficiency"],"prefix":"10.1093","volume":"49","author":[{"given":"Filippo","family":"Carlucci","sequence":"first","affiliation":[{"name":"Dipartimento di Medicina Interna, Scienze Endocrino-Metaboliche e Biochimica Universita\u0300 degli Studi di Siena, 53100 Siena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonella","family":"Tabucchi","sequence":"first","affiliation":[{"name":"Dipartimento di Medicina Interna, Scienze Endocrino-Metaboliche e Biochimica Universita\u0300 degli Studi di Siena, 53100 Siena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Aiuti","sequence":"first","affiliation":[{"name":"TIGET Scientific Institute H.S. Raffaele, 201 Milano, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Rosi","sequence":"first","affiliation":[{"name":"Dipartimento di Medicina Interna, Scienze Endocrino-Metaboliche e Biochimica Universita\u0300 degli Studi di Siena, 53100 Siena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federica","family":"Floccari","sequence":"first","affiliation":[{"name":"Dipartimento di Medicina Interna, Scienze Endocrino-Metaboliche e Biochimica Universita\u0300 degli Studi di Siena, 53100 Siena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Pagani","sequence":"first","affiliation":[{"name":"Dipartimento di Medicina Interna, Scienze Endocrino-Metaboliche e Biochimica Universita\u0300 degli Studi di Siena, 53100 Siena, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrico","family":"Marinello","sequence":"first","affiliation":[{"name":"Dipartimento di 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