|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
2
|
|
pubmed:dateCreated |
2011-8-11
|
|
pubmed:abstractText |
Phytosterolemia is a rare autosomal recessive lipid storage disease. It is caused by mutations of ABCG5 and ABCG8 genes and characterized by the increased plasma levels of plant sterols. The common clinical manifestations include tendon and tuberous xanthomas and premature coronary heart disease; it has occasionally been associated with hematologic abnormalities.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:issn |
1421-9662
|
|
pubmed:author |
|
|
pubmed:copyrightInfo |
Copyright © 2011 S. Karger AG, Basel.
|
|
pubmed:issnType |
Electronic
|
|
pubmed:volume |
126
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
95-8
|
|
pubmed:meshHeading |
pubmed-meshheading:21576934-ATP-Binding Cassette Transporters,
pubmed-meshheading:21576934-Adult,
pubmed-meshheading:21576934-Blood Platelets,
pubmed-meshheading:21576934-Cell Size,
pubmed-meshheading:21576934-Consanguinity,
pubmed-meshheading:21576934-Erythrocytes, Abnormal,
pubmed-meshheading:21576934-Hemolysis,
pubmed-meshheading:21576934-Humans,
pubmed-meshheading:21576934-Hypercholesterolemia,
pubmed-meshheading:21576934-Intestinal Diseases,
pubmed-meshheading:21576934-Lipid Metabolism, Inborn Errors,
pubmed-meshheading:21576934-Lipoproteins,
pubmed-meshheading:21576934-Male,
pubmed-meshheading:21576934-Mutation, Missense,
pubmed-meshheading:21576934-Phytosterols,
pubmed-meshheading:21576934-Splenomegaly,
pubmed-meshheading:21576934-Thrombocytopenia
|
|
pubmed:year |
2011
|
|
pubmed:articleTitle |
A phytosterolemia patient presenting exclusively with macrothrombocytopenia and stomatocytic hemolysis.
|
|
pubmed:affiliation |
Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Suzhou, China.
|
|
pubmed:publicationType |
Journal Article,
Case Reports
|
