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sitosterolemia presenting as unexplained cytopenias hematologic manifestations and genetic spectrum
Original title: “Sitosterolemia presenting as unexplained cytopenias: hematologic manifestations and genetic spectrum.”
sitosterolemia evolving strategies for earlier diagnosis
Original title: “Sitosterolemia: evolving strategies for earlier diagnosis.”
catalog of the pathogenic variants in abcg5 and abcg8 and clinical features in sitosterolemia
Original title: “A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.”
clinical and genetic analysis of an early onset sitosterolemia family caused by a novel compound heterozygous abcg5 mutation
Original title: “Clinical and genetic analysis of an early-onset sitosterolemia family caused by a novel compound heterozygous ABCG5 mutation.”