Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia.
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Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and managementMechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease riskPlant Sterols, Stanols, and SitosterolemiaAn inherited macrothrombocytopenic disorder with abnormal large granules.Plant sterols cause macrothrombocytopenia in a mouse model of sitosterolemia.Thrombocytopenia and platelet abnormalities in high-density lipoprotein receptor-deficient mice.Platelet and red blood cell indices in Harris platelet syndrome.A phytosterolemia patient presenting exclusively with macrothrombocytopenia and stomatocytic hemolysis.Genetics of familial forms of thrombocytopenia.Inherited thrombocytopenias frequently diagnosed in adults.Pathogenesis and management of inherited thrombocytopenias: rationale for the use of thrombopoietin-receptor agonists.Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.Sitosterolemia: diagnosis, investigation, and management.Diagnosis and treatment of inherited thrombocytopenias.Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias.Congenital macrothrombocytopenia is a heterogeneous disorder in India.Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematological abnormalities of sitosterolemia.Sitosterolemia Presenting as Pseudohomozygous Familial Hypercholesterolemia.Ezetimibe reduces plant sterol accumulation and favorably increases platelet count in sitosterolemia.Plant sterols and stanols: their role in health and diseasePhytosterol feeding causes toxicity in ABCG5/G8 knockout mice.Platelet hyperreactivity explains the bleeding abnormality and macrothrombocytopenia in a murine model of sitosterolemiaPlatelet alpha-granules: basic biology and clinical correlates.Canalicular ABC transporters and liver disease.What is the role of genetic testing in the investigation of patients with suspected platelet function disorders?Diagnosis of inherited bleeding disorders in the genomic era.Sitosterolemia: platelets on high-sterol diet.Mediterranean stomatocytosis/macrothrombocytopenia: update from Adelaide, Australia.Hereditary stomatocytosis: An underdiagnosed condition.Clinical utility gene card for: Sitosterolaemia.ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders.Macrothrombocytopenia/stomatocytosis specially associated with phytosterolemia.Hydroxyurea-induced stomatocytes in a patient presenting with polycythemia vera.Investigating Sitosterolemia to Understand Lipid Physiology.A case of sitosterolaemia with stomatocyticanaemia and thrombocytopenia treated with Ezetimibe with good response.The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells.ABCG5 and ABCG8: more than a defense against xenosterols
P2860
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P2860
Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia.
description
2005 nî lūn-bûn
@nan
2005 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Stomatocytic haemolysis and ma ...... sentation of phytosterolaemia.
@ast
Stomatocytic haemolysis and ma ...... sentation of phytosterolaemia.
@en
type
label
Stomatocytic haemolysis and ma ...... sentation of phytosterolaemia.
@ast
Stomatocytic haemolysis and ma ...... sentation of phytosterolaemia.
@en
prefLabel
Stomatocytic haemolysis and ma ...... sentation of phytosterolaemia.
@ast
Stomatocytic haemolysis and ma ...... sentation of phytosterolaemia.
@en
P2093
P2860
P50
P1476
Stomatocytic haemolysis and ma ...... sentation of phytosterolaemia.
@en
P2093
Achille Iolascon
Anuska Mann
Gordon W Stewart
James R Kendra
Julie Fisher
Nigel Manning
Paolo Gasparini
P2860
P304
P356
10.1111/J.1365-2141.2005.05599.X
P407
P577
2005-07-01T00:00:00Z