Article
Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease.
Biochimica et biophysica acta - 1 Sept 2010
Rombach S M, Dekker N, Bouwman M G, Linthorst G E, Zwinderman A H, Wijburg F A, Kuiper S, Vd Bergh Weerman M A, Groener J E M, Poorthuis B J, Hollak C E M, Aerts J M F G
Abstract excerpt
Fabry disease is an X-linked lysosomal storage disorder due to deficiency of alpha-Galactosidase A, causing accumulation of globotriaosylceramide and elevated plasma globotriaosylsphingosine (lysoGb3). The diagnostic value and clinical relevance of plasma lysoGb3 concentration was investigated. All male and adult female patients with classical Fabry disease could be discerned by an elevated plasma lysoGb3. In...
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