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Inborn Error of Metabolism (IEM) screening in Singapore by electrospray ionization-tandem mass spectrometry (ESI/MS/MS): An 8 year journey from pilot to current program.
Lim, J S; Tan, E S; John, C M; Poh, S; Yeo, S J; Ang, J S M; Adakalaisamy, P; Rozalli, R A; Hart, C; Tan, E T H; Ranieri, E; Rajadurai, V S; Cleary, M A; Goh, D L M.
Affiliation
  • Lim JS; Biochemical Genetics and National Expanded Newborn Screening, Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, 100 Bukit Timah Road 229899, Singapore.
  • Tan ES; Genetics Services, Department of Paediatrics, KK Women's and Children's Hospital, 100 Bukit Timah Road 229899, Singapore.
  • John CM; Biochemical Genetics and National Expanded Newborn Screening, Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, 100 Bukit Timah Road 229899, Singapore.
  • Poh S; Biochemical Genetics and National Expanded Newborn Screening, Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, 100 Bukit Timah Road 229899, Singapore.
  • Yeo SJ; Biochemical Genetics and National Expanded Newborn Screening, Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, 100 Bukit Timah Road 229899, Singapore.
  • Ang JS; Biochemical Genetics and National Expanded Newborn Screening, Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, 100 Bukit Timah Road 229899, Singapore.
  • Adakalaisamy P; Biochemical Genetics and National Expanded Newborn Screening, Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, 100 Bukit Timah Road 229899, Singapore.
  • Rozalli RA; Biochemical Genetics and National Expanded Newborn Screening, Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, 100 Bukit Timah Road 229899, Singapore.
  • Hart C; Biochemical Genetics and National Expanded Newborn Screening, Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, 100 Bukit Timah Road 229899, Singapore.
  • Tan ET; Biochemical Genetics and National Expanded Newborn Screening, Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, 100 Bukit Timah Road 229899, Singapore.
  • Ranieri E; South Australian Neonatal Screening Centre Directorate of Genetic and Molecular Pathology Women's and Children's Hospital Campus, Adelaide SA Pathology, 72 King William Road, North Adelaide, South Australia 5006, Australia.
  • Rajadurai VS; Department of Neonatology, KK Women's and Children's Hospital, 100 Bukit Timah Road 229899, Singapore.
  • Cleary MA; Genetics Services, Department of Paediatrics, KK Women's and Children's Hospital, 100 Bukit Timah Road 229899, Singapore.
  • Goh DL; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, 1E Kent Ridge Road, NUHS Tower Block Level 11, Singapore 119228; Department of Paediatrics, National University Hospital, 1E Kent Ridge Road, NUHS Tower Block Level 12, Singapore 119228.
Mol Genet Metab ; 113(1-2): 53-61, 2014.
Article in En | MEDLINE | ID: mdl-25102806
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neonatal Screening / Spectrometry, Mass, Electrospray Ionization / Tandem Mass Spectrometry / Metabolism, Inborn Errors Type of study: Diagnostic_studies / Incidence_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limits: Humans / Newborn Country/Region as subject: Asia Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2014 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
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XML
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neonatal Screening / Spectrometry, Mass, Electrospray Ionization / Tandem Mass Spectrometry / Metabolism, Inborn Errors Type of study: Diagnostic_studies / Incidence_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limits: Humans / Newborn Country/Region as subject: Asia Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2014 Document type: Article Affiliation country: Country of publication: