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rdf:type |
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lifeskim:mentions |
umls-concept:C0000744,
umls-concept:C0003593,
umls-concept:C0015127,
umls-concept:C0015677,
umls-concept:C0021853,
umls-concept:C0026882,
umls-concept:C0205251,
umls-concept:C0376674,
umls-concept:C0678226,
umls-concept:C1314792,
umls-concept:C1553189,
umls-concept:C1706412
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pubmed:issue |
1
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pubmed:dateCreated |
2009-8-31
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pubmed:abstractText |
Familial hypobetalipoproteinemia (FHBL) is characterized by inherited low plasma levels of apolipoprotein B (apoB)-containing lipoproteins. In this paper we investigated whether the already described APOB R463W missense mutation, a FHBL mutation able to impair the activity of microsomal triglyceride transfer protein (MTP), may cause intestinal fat accumulation and reduced postprandial lipemia.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
1879-1484
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pubmed:author |
pubmed-author:AvernaMaurizioM,
pubmed-author:BarbagalloCarlo MCM,
pubmed-author:CannizzaroAlessandraA,
pubmed-author:CefalùAngelo BAB,
pubmed-author:FayerFrancescaF,
pubmed-author:LicataGiuseppeG,
pubmed-author:MinàMariangelaM,
pubmed-author:NotoDavideD,
pubmed-author:PintoAntonioA,
pubmed-author:SciumèCarmeloC,
pubmed-author:TuttolomondoAntoninoA,
pubmed-author:ValentiVincenzaV
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pubmed:issnType |
Electronic
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pubmed:volume |
206
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
193-8
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pubmed:meshHeading |
pubmed-meshheading:19344897-Adolescent,
pubmed-meshheading:19344897-Adult,
pubmed-meshheading:19344897-Apolipoproteins B,
pubmed-meshheading:19344897-Carrier Proteins,
pubmed-meshheading:19344897-Child,
pubmed-meshheading:19344897-Female,
pubmed-meshheading:19344897-Humans,
pubmed-meshheading:19344897-Hyperlipidemias,
pubmed-meshheading:19344897-Hypobetalipoproteinemia, Familial, Apolipoprotein B,
pubmed-meshheading:19344897-Intestinal Mucosa,
pubmed-meshheading:19344897-Intra-Abdominal Fat,
pubmed-meshheading:19344897-Lipid Metabolism,
pubmed-meshheading:19344897-Male,
pubmed-meshheading:19344897-Middle Aged,
pubmed-meshheading:19344897-Mutation, Missense,
pubmed-meshheading:19344897-Postprandial Period,
pubmed-meshheading:19344897-Triglycerides,
pubmed-meshheading:19344897-Vitamin A
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pubmed:year |
2009
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pubmed:articleTitle |
Familial hypobetalipoproteinemia due to apolipoprotein B R463W mutation causes intestinal fat accumulation and low postprandial lipemia.
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pubmed:affiliation |
Department of Clinical Medicine and Emerging Diseases, University of Palermo, Italy.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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