Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia. - Wikidata - wikimedia - TriplyDB

Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.

Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.

http://www.wikidata.org/entity/Q33411177

about

Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management Plant Sterols, Stanols, and Sitosterolemia Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals.Sitosterolemia: diagnosis, investigation, and management.Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing.Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematological abnormalities of sitosterolemia.Ezetimibe reduces plant sterol accumulation and favorably increases platelet count in sitosterolemia.Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding.Genetics of familial hypercholesterolemia.Diagnosis of inherited bleeding disorders in the genomic era.Clinical utility gene card for: Sitosterolaemia.Effect of ezetimibe on low- and high-density lipoprotein subclasses in sitosterolemia.ABCG5 and ABCG8: more than a defense against xenosterols

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P2860

Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.

http://www.wikidata.org/entity/Q33411177

description

2014 nî lūn-bûn

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2014 թուականի Մարտին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի մարտին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

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2014年论文

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name

Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.

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Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.

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type

label

Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.

@ast

Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.

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prefLabel

Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.

@ast

Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.

@en

P1433

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P1433

American Journal of Hematology

P1476

Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.

@en

P2093

Changgeng Ruan

http://www.w3.org/2001/XMLSchema#string

Gaifeng Wang

http://www.w3.org/2001/XMLSchema#string

Lijuan Cao

http://www.w3.org/2001/XMLSchema#string

Ruijuan Wang

http://www.w3.org/2001/XMLSchema#string

Xia Bai

http://www.w3.org/2001/XMLSchema#string

Yanhua Su

http://www.w3.org/2001/XMLSchema#string

Zhaoyue Wang

http://www.w3.org/2001/XMLSchema#string

Ziqiang Yu

http://www.w3.org/2001/XMLSchema#string

P2860

Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters

Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption.

Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia.

Plant sterols cause macrothrombocytopenia in a mouse model of sitosterolemia.

The mouse mutation "thrombocytopenia and cardiomyopathy" (trac) disrupts Abcg5: a spontaneous single gene model for human hereditary phytosterolemia/sitosterolemia.

A phytosterolemia patient presenting exclusively with macrothrombocytopenia and stomatocytic hemolysis.

Phytosterolaemia in three unrelated South African families.

Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters

Sitosterolaemia: pathophysiology, clinical presentation and laboratory diagnosis.

Phytosterolaemia, xanthomatosis and premature atherosclerotic arterial disease: a case with high plant sterol absorption, impaired sterol elimination and low cholesterol synthesis.

P304

320-324

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scholarly article

P356

10.1002/AJH.23619

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3

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P478

89

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P577

2014-03-01T00:00:00Z

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258117079

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24166850

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P921

Giant platelet disorder