Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease

Molecular Genetics and Metabolism

Volumn 102, Issue 1, 2011, Pages 57-60

  Chien, Yin Hsiu ^a   Olivova, Petra ^b   Zhang, Xiaokui Kate ^b   Chiang, Shu Chuan ^a   Lee, Ni Chung ^a   Keutzer, Joan ^b   Hwu, Wuh Liang ^a  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^b GENZYME CORPORATION   (United States)

Author keywords

Galactosidase A; Fabry disease; GL3; Newborn screening; Urinary globotriaosylceramide

Indexed keywords

ALPHA GALACTOSIDASE; CREATININE; GLOBOTRIAOSYLCERAMIDE;

ARTICLE; ENZYME ACTIVITY; FABRY DISEASE; FEMALE; GENE MUTATION; HUMAN; LIQUID CHROMATOGRAPHY; MAJOR CLINICAL STUDY; MALE; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; TANDEM MASS SPECTROMETRY; URINARY EXCRETION; URINE LEVEL;

ADULT; ALPHA-GALACTOSIDASE; CASE-CONTROL STUDIES; CHROMATOGRAPHY, LIQUID; FABRY DISEASE; FOLLOW-UP STUDIES; HUMANS; INFANT, NEWBORN; LEUKOCYTES; MALE; MUTATION; TANDEM MASS SPECTROMETRY; TRIHEXOSYLCERAMIDES;

EID: 78650883927     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.08.023     Document Type: Article

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