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[Diagnostic journey of type 1 Gaucher Disease patients: A survey including internists and hematologists].

著者 Deriaz S , Serratrice C , Lidove O , Noël E , Masseau A , Lorcerie B , Jaussaud R , Marie I , Lavigne C , Cabane J , Kaminsky P , Chérin P , Maillot F ,
Rev Med Interne.2019 Sep 06 ; ():.
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Gaucher disease (GD) is a rare genetic lysosomal storage disorder caused by a beta-glucocerebrosidase deficiency and responsible for a lysosomal storage disorder. GD is characterized by haematological, visceral and bone involvements. The aim of this study was to describe the diagnostic journey of type 1 GD patients as well as the role of the internist.
PMID: 31500934 [PubMed - as supplied by publisher]
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