Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease.

Chiang, Shu-Chuan; Chen, Pin-Wen; Hwu, Wuh-Liang; Lee, An-Ju; Chen, Li-Chu; Lee, Ni-Chung; Chiou, Li-Yan; Chien, Yin-Hsiu

Chiang, Shu-Chuan; Chen, Pin-Wen; Hwu, Wuh-Liang; Lee, An-Ju; Chen, Li-Chu; Lee, Ni-Chung; Chiou, Li-Yan; Chien, Yin-Hsiu.

Afiliação

Chiang SC; Department of Medical Genetics, National Taiwan University Hospital, Taipei 10041, Taiwan.
Chen PW; Department of Medical Genetics, National Taiwan University Hospital, Taipei 10041, Taiwan.
Hwu WL; Department of Medical Genetics, National Taiwan University Hospital, Taipei 10041, Taiwan.
Lee AJ; Department of Pediatrics, National Taiwan University College of Medicine, Taipei 10041, Taiwan.
Chen LC; Department of Pediatrics, National Taiwan University Children Hospital, Taipei 10041, Taiwan.
Lee NC; Department of Medical Genetics, National Taiwan University Hospital, Taipei 10041, Taiwan.
Chiou LY; Department of Medical Genetics, National Taiwan University Hospital, Taipei 10041, Taiwan.
Chien YH; Department of Medical Genetics, National Taiwan University Hospital, Taipei 10041, Taiwan.

Int J Neonatal Screen ; 4(4): 41, 2018 Dec.

Article em En | MEDLINE | ID: mdl-33072961

Palavras-chave

Fabry newborn screening; Gaucher newborn screening; Pompe newborn screening; accuracy; tandem mass spectrometry

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Screening_studies Idioma: En Revista: Int J Neonatal Screen Ano de publicação: 2018 Tipo de documento: Article

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