Given the difficulties in diagnosis of type 1 GD in adults because of disease heterogeneity and lack of awareness, appropriate diagnostic algorithms or flow-charts starting from non-specific findings may help. Case reports help to establish the usefulness of our proposed flowchart in patients presenting with “unexplained hyperferritinemia”.
Hyperferritinemia and diagnosis of type 1 Gaucher disease / Marchi, Giacomo; Nascimbeni, Fabio; Motta, Irene; Busti, Fabiana; Carubbi, Francesca; Cappellini, Maria Domenica; Pietrangelo, Antonello; Corradini, Elena; Piperno, Alberto; Girelli, Domenico. - In: AMERICAN JOURNAL OF HEMATOLOGY. - ISSN 0361-8609. - 95:5(2020), pp. 570-576. [10.1002/ajh.25752]
Hyperferritinemia and diagnosis of type 1 Gaucher disease
Nascimbeni, FabioInvestigation
;Carubbi, FrancescaWriting – Original Draft Preparation
;Pietrangelo, AntonelloMembro del Collaboration Group
;Corradini, Elena
Writing – Original Draft Preparation
;
2020
Abstract
Given the difficulties in diagnosis of type 1 GD in adults because of disease heterogeneity and lack of awareness, appropriate diagnostic algorithms or flow-charts starting from non-specific findings may help. Case reports help to establish the usefulness of our proposed flowchart in patients presenting with “unexplained hyperferritinemia”.
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