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PedAM

Pediatric Disease Annotations & Medicines




Disease thrombocytopenia
Phenotype C0017205|gaucher disease
Sentences 5
PubMedID- 25818635 This remains a cogent concern because of high incidence of thrombocytopenia in patients with gaucher disease.
PubMedID- 25002998 In contrast, google does not return documents relevant for the diagnosis on at least the first three pages of results.6 another example is the query “osteopenia, hepatomegaly, anemia, fatigue, thrombocytopenia, nosebleed, jewish” with gaucher disease as the likely diagnosis.7 another case story reported on the web8 describes the laborious process of finding the correct diagnosis.
PubMedID- 24363036 Epidural hematoma in gaucher disease, usually attributed to thrombocytopenia, is a rare manifestation of skeletal complication, mimicking malignant processes.
PubMedID- 19969492 Conclusion: the [-1426(c/t)] polymorphic variant of par1 is associated with thrombocytopenia in gaucher disease.
PubMedID- 22640238 The characteristics of gaucher disease (gd) associated with persistent thrombocytopenia despite imiglucerase enzyme therapy in type 1 gd (gd1) were investigated by retrospective analysis of international collaborative gaucher group (icgg) registry data.

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