ArticleIranian journal of pediatric hematology and oncology2013
Gaucher's Disease, an Unusual Cause of Massive Splenomegaly, a Case Report.
Article in Iranian journal of pediatric hematology and oncology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 10 citations in OpenAlex.
- Different and unusual presentation of Gaucher's disease with the same mutation in the glucocerebrosidase enzyme (F266L) in two patients: a case report.Journal of medical case reports · 2024Article
- Progressive myoclonic epilepsy and horizontal gaze palsy: a rare aetiology.BMJ case reports · 2017Article
- Thalassaemia Trait with Gaucher Disease: A Diagnostic Dilemma.Journal of clinical and diagnostic research : JCDR · 2017Article
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Authors and funding
4 authors at 1 institution in 1 country.
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Abstract
backgroundGaucher's Disease (G.D.) is an autosomal recessive disorder resulting from the accumulation of glucocerebrosidase in the cells of macrophage-monocyte system as a result of a deficiency in lysosomal glucocerebrosidase. This enzyme is encoded by a gene on chromosome-1. Here we report a case of Gaucher's Disease .G.D is rare in Yazd. CASE REPORTS: We reported a patient that presented with weakness, pallor and gradually increasing abdominal girth. Clinical examination and history pointed to be a lipid storage disease. Final diagnosis of G.D. was reported after examining the bone marrow smears. Confirmation of diagnosis on Gaucher's disease was performed by measurement of glucocerebrosidase level.
conclusionWe report a case of G.D. to emphasize the importance of early recognition by clinical manifestation and histological findings. G.D. should be considered in the differential diagnosis of children with unexplained splenomegaly.
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24575292PMC3915458W274574974What OpenQuestion holds
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