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Collating the opinions of 22 global experts, the Gaucher Earlier Diagnosis Consensus (GED-C) initiative determined which risk factors are potential indicators of Gaucher disease (GD). The aim is to create… Click to show full abstract
Collating the opinions of 22 global experts, the Gaucher Earlier Diagnosis Consensus (GED-C) initiative determined which risk factors are potential indicators of Gaucher disease (GD). The aim is to create an algorithm based on these risk factors that can differentiate possible GD from other diseases in which such factors occur. A feasibility study was conducted to assess whether patients in three disease groups (liver disease [LD] haematologic malignancy [HM] immune thrombocytopenic purpura [ITP] N=25 per group) who had similar risk factors to GD patients (N=25) could inform development of this algorithm. Pearson's chi-squared test was used in all comparisons. Family history of GD was only associated with GD (n=8 overall, p
Journal Title: Molecular Genetics and Metabolism
Year Published: 2019
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