Application of mass spectrometry in newborn screening: About both small molecular diseases and lysosomal storage diseases

Topics in Current Chemistry

Volumn 336, Issue , 2014, Pages 177-196

  Hwu, Wuh Liang ^a   Chien, Yin Hsiu ^a   Lee, Ni Chung ^a   Wang, Shiao Fang ^a   Chiang, Shu Chuan ^a   Hsu, Li Wen ^a  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Acylcarnitine; Amino acid; Lysosomal storage disease; Newborn screening; Second tier; Tandem mass spectroscopy

Indexed keywords

ACYLCARNITINE; AMINO ACID; CARNITINE; DRUG DERIVATIVE;

ARTICLE; HUMAN; INBORN ERROR OF METABOLISM; LYSOSOME STORAGE DISEASE; METHODOLOGY; NEWBORN; NEWBORN SCREENING; TANDEM MASS SPECTROMETRY;

AMINO ACIDS; CARNITINE; HUMANS; INFANT, NEWBORN; LYSOSOMAL STORAGE DISEASES; METABOLISM, INBORN ERRORS; NEONATAL SCREENING; TANDEM MASS SPECTROMETRY;

EID: 84890901494     PISSN: 03401022     EISSN: None     Source Type: Book Series    
DOI: 10.1007/128-2012-354     Document Type: Article

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