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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2011-4-19
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pubmed:abstractText |
Familial hypobetalipoproteinemia (FHBL) is an autosomal dominant disease characterized by abnormally low levels of apolipoprotein-B (apoB) containing lipoproteins. FHBL is caused by APOB, PCSK9 or ANGPTL3 mutations or is associated with loci located in chromosomes 10 and 3p21. However, other genes should be involved. This study describes the kinetic parameters of the apoB containing lipoproteins and sequence abnormalities of the APOB and PCSK9 genes of FHBL patients identified in a large hospital based survey.
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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:issn |
1665-2681
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
10
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
155-64
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pubmed:dateRevised |
2011-9-9
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pubmed:meshHeading |
pubmed-meshheading:21502677-Adult,
pubmed-meshheading:21502677-Apolipoprotein B-100,
pubmed-meshheading:21502677-Carbon Isotopes,
pubmed-meshheading:21502677-Data Collection,
pubmed-meshheading:21502677-Fatty Liver,
pubmed-meshheading:21502677-Female,
pubmed-meshheading:21502677-Genotype,
pubmed-meshheading:21502677-Hospitals,
pubmed-meshheading:21502677-Humans,
pubmed-meshheading:21502677-Hypobetalipoproteinemias,
pubmed-meshheading:21502677-Inpatients,
pubmed-meshheading:21502677-Leucine,
pubmed-meshheading:21502677-Liver,
pubmed-meshheading:21502677-Liver Function Tests,
pubmed-meshheading:21502677-Male,
pubmed-meshheading:21502677-Middle Aged,
pubmed-meshheading:21502677-Models, Genetic,
pubmed-meshheading:21502677-Pedigree,
pubmed-meshheading:21502677-Polymorphism, Genetic,
pubmed-meshheading:21502677-Serine Endopeptidases
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pubmed:articleTitle |
Familial hypobetalipoproteinemia in a hospital survey: genetics, metabolism and non-alcoholic fatty liver disease.
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pubmed:affiliation |
Departamento de Medicina Interna, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Ciudad de México, México. cirlos@hotmail.com
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pubmed:publicationType |
Journal Article
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