Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry

Clinica Chimica Acta

Volumn 411, Issue 19-20, 2010, Pages 1428-1431

  Dajnoki, Angéla ^a,b   Fekete, György ^b   Keutzer, Joan ^c   Orsini, Joseph J ^d   De Jesus, Victor R ^e   Chien, Yin Hsiu ^f   Hwu, Wuh Liang ^f   Lukacs, Zoltan ^g   Mühl, Adolf ^a   Zhang, X Kate ^c   Bodamer, Olaf ^a,h  

^a ST ANNA CHILDREN S HOSPITAL   (Austria)

^b SEMMELWEIS UNIVERSITY   (Hungary)

^c GENZYME CORPORATION   (United States)

^d WADSWORTH CENTER   (United States)

^e CENTERS FOR DISEASE CONTROL AND PREVENTION   (United States)

^f NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^g UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^h PARACELSUS MEDICAL UNIVERSITY   (Austria)

Author keywords

Dried blood; Fabry disease; Galactosidase; Newborn screening; Tandem mass spectrometry

Indexed keywords

ALPHA GALACTOSIDASE;

ARTICLE; BLOOD ANALYSIS; CONTROLLED STUDY; ENZYME ACTIVITY; FABRY DISEASE; FEMALE; HUMAN; MALE; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; REFERENCE VALUE; TANDEM MASS SPECTROMETRY; VALIDITY;

ALPHA-GALACTOSIDASE; FABRY DISEASE; FEMALE; HUMANS; INFANT, NEWBORN; MALE; NEONATAL SCREENING; SEX FACTORS; TANDEM MASS SPECTROMETRY;

EID: 77955056761     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2010.03.009     Document Type: Article

References (14)

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