Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease

Molecular Genetics and Metabolism

Volumn 93, Issue 3, 2008, Pages 331-340

  Auray Blais, Christiane ^a   Cyr, Denis ^a   Ntwari, Aimé ^a   West, Michael L ^b   Cox Brinkman, Josanne ^c   Bichet, Daniel G ^d   Germain, Dominique P ^e   Laframboise, Rachel ^f   Melançon, Serge B ^g   Stockley, Tracy ^h   Clarke, Joe T R ^a   Drouin, Régen ^a  

^a UNIVERSITY OF SHERBROOKE   (Canada)

^b DALHOUSIE UNIVERSITY   (Canada)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d HÔPITAL DU SACRÉ COEUR DE MONTRÉAL   (Canada)

^e RAYMOND POINCARÉ HOSPITAL   (France)

^f LAVAL UNIVERSITY   (Canada)

^g MONTREAL CHILDREN S HOSPITAL   (Canada)

^h HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Creatinine; Fabry disease; Gb3; Gb3 creatinine levels; Genotype phenotype correlations; Globotriaosylceramide; LC MS MS; Liquid chromatography tandem mass spectrometry; Urine filter paper sample

Indexed keywords

ALPHA GALACTOSIDASE; CREATININE; GLOBOTRIAOSYLCERAMIDE;

ADOLESCENT; ADULT; AGE DISTRIBUTION; ARTICLE; CHILD; CONTROLLED STUDY; CREATININE URINE LEVEL; ENZYME REPLACEMENT; FABRY DISEASE; FEMALE; FRAMESHIFT MUTATION; GENOTYPE; HUMAN; LIQUID CHROMATOGRAPHY; MAJOR CLINICAL STUDY; MALE; MASS SPECTROMETRY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRIORITY JOURNAL; REPRODUCIBILITY; RNA SPLICING; SEX DIFFERENCE; STATISTICAL ANALYSIS; STATISTICAL SIGNIFICANCE; URINARY EXCRETION;

ADOLESCENT; ADULT; AGED; ALPHA-GALACTOSIDASE; CHILD; CHILD, PRESCHOOL; CHROMATOGRAPHY, LIQUID; CREATININE; FABRY DISEASE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION; TANDEM MASS SPECTROMETRY; TRIHEXOSYLCERAMIDES;

EID: 38849109999     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.10.001     Document Type: Article

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