Urinary lipid profiling for the identification of fabry hemizygotes and heterozygotes

Clinical Chemistry

Volumn 51, Issue 4, 2005, Pages 688-694

  Fuller, Maria ^a,b   Sharp, Peter C ^a   Rozaklis, Tina ^a   Whitfield, Phillip D ^a,c   Blacklock, David ^a   Hopwood, John J ^a,b   Meikle, Peter J ^a,b  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c UNIVERSITY OF LIVERPOOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE; CERAMIDE; CERAMIDE TRIHEXOSIDE; GLUCOSYLCERAMIDE; LACTOSYLCERAMIDE; SPHINGOMYELIN;

ARTICLE; CONTROLLED STUDY; DISEASE MARKER; ELECTROSPRAY MASS SPECTROMETRY; ENZYME DEFICIENCY; ENZYME SUBSTRATE; FABRY DISEASE; GENETIC COUNSELING; HEMIZYGOTE; HETEROZYGOTE; HUMAN; LIPID ANALYSIS; LYSOSOME STORAGE DISEASE; TANDEM MASS SPECTROMETRY; URINALYSIS; X CHROMOSOME LINKED DISORDER;

FABRY DISEASE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; LIPIDS; REPRODUCIBILITY OF RESULTS; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION;

EID: 16244379886     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2004.041418     Document Type: Article

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