6533b871fe1ef96bd12d11e4

RESEARCH PRODUCT

Plasma non-cholesterol sterols in primary hypobetalipoproteinemia

Maurizio AvernaFrancesca FayerDavide NotoAngelo B. CefalùPin YueGustav SchonfeldMariangela MinaPatrizia TarugiGiacoma Barraco

subject

Adultmedicine.medical_specialtySettore MED/09 - Medicina InternaAdolescentNon-cholesterol sterolbehavioral disciplines and activitiesAbsorptionHypobetalipoproteinemiaschemistry.chemical_compoundHypolipemiafamilial hypobetalipoproteinemia; non-cholesterol sterols; geneticsPlasma cholesterolInternal medicinemental disordersGeneticsmedicinenon-cholesterol sterolsHumansgeneticsFamilial hypobetalipoproteinemiaIntestinal MucosaChildAgedAged 80 and overFamily HealthModels GeneticCholesterolFamilial HypobetalipoproteinemiaPhytosterolsMiddle Agedmedicine.diseaseSterolSterolsfamilial hypobetalipoproteinemiaCholesterolPhenotypeEndocrinologychemistryBiochemistryHomogeneousMutationHypobetalipoproteinemiaCardiology and Cardiovascular Medicine

description

Primary hypobetalipoproteinemia (pHBL) is characterized by plasma cholesterol levels ApoB48, and FHBL harbouring as yet unknown molecular defects. Not linked FHBL kindred are not homogeneous in terms of plasma NCS levels. NCS cannot replace genetic HBL analysis.

yearjournalcountryeditionlanguage
2011-01-01Atherosclerosis
https://doi.org/10.1016/j.atherosclerosis.2010.10.050