The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry

Journal of Pharmaceutical and Biomedical Analysis

Volumn 88, Issue , 2014, Pages 201-206

  la Marca, Giancarlo ^a,b   Giocaliere, Elisa ^a   Malvagia, Sabrina ^a   Funghini, Silvia ^a   Ombrone, Daniela ^a   Della Bona, Maria Luisa ^a   Canessa, Clementina ^a   Lippi, Francesca ^a   Romano, Francesca ^a   Guerrini, Renzo ^a,b   Resti, Massimo ^a   Azzari, Chiara ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

Author keywords

ADA SCID; Adenosine deaminase defect; Expanded newborn screening; LC MS MS; Second tier test

Indexed keywords

ADENOSINE DEAMINASE;

ADENOSINE DEAMINASE DEFICIENCY; ARTICLE; BONE MARROW TRANSPLANTATION; CONTROLLED STUDY; DISEASE SEVERITY; DRIED BLOOD SPOT TESTING; ENZYME REPLACEMENT; HUMAN; HUMAN TISSUE; MASS SCREENING; NEWBORN SCREENING; PREDICTIVE VALUE; PREMATURITY; PRIORITY JOURNAL; REFERENCE VALUE; SEVERE COMBINED IMMUNODEFICIENCY; TANDEM MASS SPECTROMETRY;

2-DEOXYADENOSINE; ADA; ADA-SCID; ADENOSINE; ADENOSINE DEAMINASE; ADENOSINE-DEAMINASE DEFECT; ADO; DADO; DBS; DRIED BLOOD SPOT; ENZYME REPLACEMENT THERAPY; ERT; EXPANDED NEWBORN SCREENING; HIGH-PERFORMANCE LIQUID CHROMATOGRAPHY; HPLC; LC-MS/MS; LIMIT OF DETECTION; LIQUID CHROMATOGRAPHY/TANDEM MASS SPECTROMETRY; LLOQ; LOD; LOWER LIMIT OF QUANTITATION; MASS SPECTROMETRY; MRM; MS; MULTIPLE REACTION MONITORING; ROOM TEMPERATURE; RT; SCID; SECOND TIER TEST; SEVERE COMBINED IMMUNODEFICIENCY; SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE-DEAMINASE DEFECT; SUAC; SUCCINYLACETONE; T-CELL RECEPTOR EXCISION CIRCLES; TRECS;

ADENOSINE DEAMINASE; CALIBRATION; DRIED BLOOD SPOT TESTING; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; PILOT PROJECTS; PREDICTIVE VALUE OF TESTS; REFERENCE VALUES; REPRODUCIBILITY OF RESULTS; RETROSPECTIVE STUDIES; SEVERE COMBINED IMMUNODEFICIENCY; TANDEM MASS SPECTROMETRY;

EID: 84884557504     PISSN: 07317085     EISSN: 1873264X     Source Type: Journal    
DOI: 10.1016/j.jpba.2013.08.044     Document Type: Article

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