Inborn error of metabolism (IEM) screening in Singapore by electrospray ionization-tandem mass spectrometry (ESI/MS/MS): An 8year journey from pilot to current program

Molecular Genetics and Metabolism

Volumn 113, Issue 1, 2014, Pages 53-61

  Lim, J S ^a   Tan, E S ^a   John, C M ^a,e   Poh, S ^a   Yeo, S J ^a   Ang, J S M ^a   Adakalaisamy, P ^a   Rozalli, R A ^a   Hart, C ^a,f   Tan, E T H ^a   Ranieri, E ^d   Rajadurai, V S ^a   Cleary, M A ^a,g   Goh, D L M ^b,c  

^a KK WOMEN'S AND CHILDREN'S HOSPITAL   (Singapore)

^b NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^c NATIONAL UNIVERSITY HOSPITAL   (Singapore)

^d WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^e ST THOMAS HOSPITAL   (United Kingdom)

^f St Mary's Hospital   (United Kingdom)

^g GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

FAOD; Inborn error of metabolism; MS MS; Newborn screening; Tandem mass spectrometry

Indexed keywords

ACYLCARNITINE; CARNITINE; CITRULLINE; METHIONINE; METHYLCROTONOYL COENZYME A CARBOXYLASE; PHENYLALANINE; TYROSINE; VALINE;

ACIDEMIA; AMINO ACIDOPATHY; ARTICLE; BIOPTERIN DEFICIENCY; CARNITINE UPTAKE DEFECT; CITRULLINEMIA TYPE II; CYANOCOBALAMIN DEFICIENCY; ELECTROSPRAY MASS SPECTROMETRY; FATTY ACID OXIDATION; FOLLOW UP; HOMOCYSTINURIA; HUMAN; HYPERARGININEMIA; HYPERPHENYLALANINEMIA; INBORN ERROR OF METABOLISM; ISOBUTYRYLGLYCINURIA; MAJOR CLINICAL STUDY; METHYLMALONIC ACIDEMIA; METHYLMALONIC ACIDURIA; NEWBORN; NEWBORN SCREENING; ORNITHINE TRANSCARBOMYLASE DEFICIENCYI; PILOT STUDY; PREDICTIVE VALUE; RAPID RESPONSE TEAM; SINGAPORE; TYROSINEMIA; ALGORITHM; INCIDENCE; MASS SCREENING; METABOLISM, INBORN ERRORS; PREVALENCE; PROCEDURES; REPRODUCIBILITY; SENSITIVITY AND SPECIFICITY; STANDARDS; TANDEM MASS SPECTROMETRY;

ALGORITHMS; HUMANS; INCIDENCE; INFANT, NEWBORN; MASS SCREENING; METABOLISM, INBORN ERRORS; NEONATAL SCREENING; PILOT PROJECTS; PREVALENCE; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; SINGAPORE; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION; TANDEM MASS SPECTROMETRY;

EID: 84908539789     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2014.07.018     Document Type: Article

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