A phytosterolemia patient presenting exclusively with macrothrombocytopenia and stomatocytic hemolysis

Acta Haematologica

Volumn 126, Issue 2, 2011, Pages 95-98

  Wang, Gaifeng ^a   Wang, Zhaoyue ^a   Liang, Jianying ^a   Cao, Lijuan ^a   Bai, Xia ^a   Ruan, Changgeng ^a  

^a THE FIRST AFFILIATED HOSPITAL OF SOOCHOW UNIVERSITY   (China)

Author keywords

Macrothrombocytopenia; Phytosterolemia; Stomatocytic hemolysis

Indexed keywords

APOLIPOPROTEIN B; CHOLESTANOL; CORTICOSTEROID; HEMOGLOBIN; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; SITOSTEROL; STIGMASTEROL;

ABCG5 GENE; ABCG8 GENE; ADULT; ANEMIA; ARTICLE; BLEEDING TENDENCY; CASE REPORT; CHOLESTEROL BLOOD LEVEL; CONSANGUINITY; EPISTAXIS; GENE; GENETIC POLYMORPHISM; GINGIVA BLEEDING; HEMATURIA; HEMOGLOBIN BLOOD LEVEL; HEMOLYSIS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOMOZYGOTE; HUMAN; LIPID BLOOD LEVEL; LIPIDOSIS; MALE; MISSENSE MUTATION; OSMOTIC FRAGILITY; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; RETICULOCYTE COUNT; SKIN BRUISING; SPLENECTOMY; SPLENOMEGALY; THROMBOCYTE COUNT; THROMBOCYTOPENIA; THROMBOCYTOPENIC PURPURA;

ADULT; ATP-BINDING CASSETTE TRANSPORTERS; BLOOD PLATELETS; CELL SIZE; CONSANGUINITY; ERYTHROCYTES, ABNORMAL; HEMOLYSIS; HUMANS; HYPERCHOLESTEROLEMIA; INTESTINAL DISEASES; LIPID METABOLISM, INBORN ERRORS; LIPOPROTEINS; MALE; MUTATION, MISSENSE; PHYTOSTEROLS; SPLENOMEGALY; THROMBOCYTOPENIA;

EID: 79955894669     PISSN: 00015792     EISSN: 14219662     Source Type: Journal    
DOI: 10.1159/000327248     Document Type: Article

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