Scientific article
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Coagulation Parameters in Adult Patients With Type-1 Gaucher Disease

Published inJournal of Hematology, vol. 8, no. 3, p. 121-124
Publication date2019
Abstract

Gaucher disease is a rare inborn error of lysosomal metabolism, characterized by lysosomal storage of the β-glucosylceramide. Bleedings observed in type-1 Gaucher disease (GD1) are commonly attributed to a low platelet count, but they can also occur when the platelet count is normal or slightly low. Abnormal platelet function has been described and deficiencies in coagulation factors too, such as factors II, V, VII, VIII, IX, X, XI, XII, and von Willebrand factor. However, studies are few in number, involving few patients and having varying conclusions. The aim of this study was to analyze clotting factor deficiencies in a larger cohort of French patients with GD1.

Keywords
  • Clotting factors
  • Coagulation
  • Gaucher disease
  • Lysosomal storage disorder
Citation (ISO format)
DE ROUX SERRATRICE, Christine et al. Coagulation Parameters in Adult Patients With Type-1 Gaucher Disease. In: Journal of Hematology, 2019, vol. 8, n° 3, p. 121–124. doi: 10.14740/jh543
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Article (Published version)
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Journal ISSN1927-1212
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