Diagnosing lysosomal storage disorders: Fabry disease

Current Protocols in Human Genetics

Volumn , Issue SUPPL.77, 2013, Pages

  Bodamer, Olaf A ^a   Johnson, Britt ^a   Dajnoki, Angela ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

Dried blood spot; Fabry disease; Galactosidase alpha; Glycosphingolipid; Tandem mass spectrometry

Indexed keywords

ALPHA GALACTOSIDASE;

ADULT; ANALYTIC METHOD; ARTICLE; CONTROLLED STUDY; DRIED BLOOD SPOT TESTING; ENZYME ACTIVITY; ENZYME ANALYSIS; FABRY DISEASE; FEMALE; HUMAN; MAJOR CLINICAL STUDY; MALE; NEWBORN; PRIORITY JOURNAL; SEX DIFFERENCE; TANDEM MASS SPECTROMETRY; BLOOD; CHEMISTRY; CYTOLOGY; GENETICS; HIGH THROUGHPUT SCREENING; LEUKOCYTE; NEWBORN SCREENING; PATHOLOGY; PROCEDURES;

ALPHA-GALACTOSIDASE; DRIED BLOOD SPOT TESTING; FABRY DISEASE; FEMALE; HIGH-THROUGHPUT SCREENING ASSAYS; HUMANS; INFANT, NEWBORN; LEUKOCYTES; MALE; NEONATAL SCREENING; TANDEM MASS SPECTROMETRY;

EID: 84883207999     PISSN: 19348266     EISSN: 19348258     Source Type: Journal    
DOI: 10.1002/0471142905.hg1713s77     Document Type: Article

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