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Title

Modeling changes in biomarkers in Gaucher disease patients receiving enzyme replacement therapy using a pathophysiological model

Authors
Vigan, Marie
Caillaud, Catherine
Froissart, Roseline
Boutten, Anne
Fantin, Bruno
Belmatoug, Nadia
Mentré, France
Published in Orphanet Journal of Rare Diseases. 2014, vol. 9, no. 1, p. 95
Abstract Gaucher disease (GD) is a rare recessively inherited disorder caused by deficiency of a lysosomal enzyme, glucocerebrosidase. Accumulation of glucosylceramide or glucosylsphingosine in macrophages leads to increased production of ferritin and chitotriosidase and to decreases in hemoglobin concentration and platelet count, which are used as blood biomarkers. GD is treated by enzyme replacement therapy (ERT) or, sometimes by substrate reduction therapy. However, no physiological model for analysis of biomarkers change during ERT has been proposed. We aimed to develop a pathophysiological model to analyze biomarker's response to ERT and several covariates impact.
Keywords AdolescentAdultAgedBiological Markers/metabolismChildChild, PreschoolFemaleGaucher Disease/metabolism/physiopathology/therapyGlucosylceramidase/therapeutic useHumansInfantMaleMiddle AgedYoung Adult
Identifiers
PMID: 24980507
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Article (Published version) (1.9 MB) - public document Free access
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Research group Groupe Perrier Arnaud (Médecine interne générale, de réhabilitation et de gériatrie) (585)
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VIGAN, Marie et al. Modeling changes in biomarkers in Gaucher disease patients receiving enzyme replacement therapy using a pathophysiological model. In: Orphanet Journal of Rare Diseases, 2014, vol. 9, n° 1, p. 95. https://archive-ouverte.unige.ch/unige:78659

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Deposited on : 2015-12-15

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