Browsing Research Articles by Subject "Case report"

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Type 1 Gaucher’s Disease. A Rare Genetic Lipid Metabolic Disorder Whose Diagnosis Was Concealed by Recurrent Malaria Infections in a 12-Year-Old Girl

Mitala, Yekosani; Birungi, Abraham; Mushabe, Branchard; Manzi, John; Ssenkumba, Brian; Atwine, Raymond; Ankunda, Siyadora (Journal of Blood Medicine, 2024)

Introduction: Gaucher disease is a rare autosomal recessive lysosomal storage disease with unknown prevalence in Africa and no record of the disease exists in Uganda. Case Presentation: We report a case of a 12-year-old ...