| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 7631353 | Journal of Pharmaceutical and Biomedical Analysis | 2014 | 6 Pages |
Abstract
- A new method for inclusion of ADA-SCID in newborn screening program is proposed.
- The method requires a minimized preparation process and very low running costs.
- The effectiveness of the test was checked by testing DBS from 9 ADA-SCID patients.
- A second tier test to improve the positive predictive value is developed.
Keywords
2-deoxyadenosineSUACLLOQADA-SCIDT-cell receptor excision circlesTRECsADODBSMRMSCIDLC–MS/MSAdenosineadenosine deaminaseenzyme replacement therapyLOD یا Limit of detectiondADORoom temperatureSuccinylacetoneMass spectrometryExpanded newborn screeninglimit of detectionlower limit of quantitationmultiple reaction monitoringDried blood spotERTADALiquid chromatography/tandem mass spectrometryhigh-performance liquid chromatographyHPLCsevere combined immunodeficiency
Related Topics
Physical Sciences and Engineering
Chemistry
Analytical Chemistry
Authors
Giancarlo la Marca, Elisa Giocaliere, Sabrina Malvagia, Silvia Funghini, Daniela Ombrone, Maria Luisa Della Bona, Clementina Canessa, Francesca Lippi, Francesca Romano, Renzo Guerrini, Massimo Resti, Chiara Azzari,