[Contribution of the measurement of globotriaosylceramide in urine to the diagnosis and follow-up of Fabry disease].

Piraud, M; Maire, I; Froissart, R

[Contribution of the measurement of globotriaosylceramide in urine to the diagnosis and follow-up of Fabry disease]. / Intérêt du dosage du globotriaosylcéramide urinaire pour le diagnostic et le suivi du traitement de la maladie de Fabry.

Piraud, M; Maire, I; Froissart, R.

Affiliation

Piraud M; Laboratoire des Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Centre de Biologie Est, Hospices Civils de Lyon, 59 boulevard Pinel, 69677, Bron cedex, France. monique.piraud@chu-lyon.fr

Rev Med Interne ; 31 Suppl 2: S270-4, 2010 Dec.

Article in Fr | MEDLINE | ID: mdl-21211678

Subject(s)

Fabry Disease/diagnosis; Fabry Disease/urine; Trihexosylceramides/urine; Adolescent; Adult; Aged; Aged, 80 and over; Biomarkers/urine; Child; Child, Preschool; Fabry Disease/drug therapy; Fabry Disease/genetics; Female; Follow-Up Studies; Hemizygote; Heterozygote; Humans; Infant; Infant, Newborn; Male; Middle Aged; Mutation; Predictive Value of Tests; Sensitivity and Specificity; Treatment Outcome; alpha-Galactosidase/therapeutic use

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Trihexosylceramides / Fabry Disease Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Aspects: Patient_preference Limits: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Infant / Male Language: Fr Journal: Rev Med Interne Year: 2010 Document type: Article

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