作者：V. Ingrassia¹ ; ² ; ^{ingrassiavaleria@virgilio.it} ; A. Zambon¹ ; ² ; R. Spina¹ ; ² ; S. Zambon¹ ; ² ; S. Bertocco¹ ; ² ; A. Giammanco¹ ; ² ; A.B. Cefalù ; ¹ ; ² ; G.I. Altieri¹ ; ² ; D. Noto¹ ; ² ; C. Scrimali¹ ; ² ; G. Misiano¹ ; ² ; F. Fayer¹ ; ² ; V. Valenti¹ ; ² ; A. Ganci¹ ; ² ; C.M. Barbagallo¹ ; ² ; M.R. Averna¹ ; ²

刊名：Nutrition, Metabolism and Cardiovascular Diseases

出版年：2017

作者：Amanda J. Hooper^a ; ^b ; ^c ; Ken Robertson^a ; ^c ; Danie Champain^b ; Jianmin Hua^d ; Swithin Song^d ; Klaus G. Parhofer^e ; P. Hugh R. Barrett^b ; Frank M. van Bockxmeer^a ; ^f ; John R. Burnett^a ; ^b ; ^{john.burnett@health.wa.gov.au" class="auth_mail" title="E-mail the corresponding author}

关键词：apo ; apolipoprotein ; FCR ; fractional catabolic rate ; FHBL ; familial hypobetalipoproteinemia ; IDL ; intermediate density lipoprotein ; LDL ; low density lipoprotein ; VLDL ; very low density lipoprotein

刊名：Clinical Biochemistry

出版年：2016

作者：Antoine Rimbert^a ; ^b ; ^c ; Matthieu Pichelin^a ; ^b ; ^c ; ^d ; ^e ; Simon Lecointe^a ; ^b ; ^c ; ^d ; Marie Marrec^d ; ^e ; Solena Le Scouarnec^a ; ^b ; ^c ; Elias Barrak^a ; ^b ; ^c ; ^d ; Mikael Croyal^f ; Michel Krempf^c ; ^d ; ^f ; Hervé ; Le Marec^a ; ^b ; ^c ; ^d ; Richard Redon^a ; ^b ; ^c ; ^d ; Jean-Jacques Schott^a ; ^b ; ^c ; ^d ; ^{jjschott@univ-nantes.fr" class="auth_mail" title="E-mail the corresponding author} ; Jocelyne Magré ; ^a ; ^b ; ^c ; Bertrand Cariou^a ; ^b ; ^c ; ^d ; ^e ; ^{bertrand.cariou@univ-nantes.fr" class="auth_mail" title="E-mail the corresponding author}

关键词：Familial hypobetalipoproteinemia ; Target next generation sequencing ; APOB ; PCSK9 ; Molecular diagnosis

刊名：Atherosclerosis

出版年：2016

作者：Berna Seker Yilmaz^a ; ^{berna_seker@yahoo.co.uk" class="auth_mail" title="E-mail the corresponding author} ; Neslihan Onenli Mungan^a ; ^{munganhno@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Enza Di Leo^b ; ^c ; ^{enzadileo76@libero.it" class="auth_mail" title="E-mail the corresponding author} ; Lucia Magnolo^b ; ^{lucillamag@libero.it" class="auth_mail" title="E-mail the corresponding author} ; Lucia Artuso^c ; ^{lucia.artuso@unimore.it" class="auth_mail" title="E-mail the corresponding author} ; Isabella Bernardis^c ; ^{isabella.bernardis@unimore.it" class="auth_mail" title="E-mail the corresponding author} ; Gokhan Tumgor^d ; ^{gtumgor74@yahoo.com" class="auth_mail" title="E-mail the corresponding author} ; Deniz Kor^a ; ^{dozonur@yahoo.com" class="auth_mail" title="E-mail the corresponding author} ; Patrizia Tarugi^b ; ^c ; ^{tarugi@unimore.it" class="auth_mail" title="E-mail the corresponding author}

关键词：ABL ; abetalipoproteinemia ; FHBL ; familial hypobetalipoproteinemia ; CMRD ; chylomicron retention disease ; HDL-C ; high density lipoprotein-cholesterol ; LDL-C ; low density lipoprotein-cholesterol ; TC ; total cholesterol ; TG ; triglyceride

刊名：Clinica Chimica Acta

出版年：2016

作者：Lucia Magnolo^a ; Davide Noto^b ; Angelo B. Cefalù ; ^b ; Maurizio Averna^b ; Sebastiano Calandra^c ; Zemin Yao^d ; Patrizia Tarugi^a ;

关键词：Apo ; apolipoprotein ; DMEM ; Dulbecco's modified Eagle's medium ; ER ; endoplasmic reticulum ; FBS ; fetal bovine serum ; FHBL ; familial hypobetalipoproteinemia ; HDL ; high density lipoprotein ; LDL ; low density lipoprotein ; PS ; penicillin&ndash ; streptomycin ; VLDL ; very low density lipoprotein

刊名：Biochimica et Biophysica Acta (BBA)-Molecular and Cell Biology of Lipids

出版年：2016

作者：I. Ramasamy

关键词：Dyslipidemia ; Familial hypercholesterolemia ; Autosomal recessive hypercholesterolemia ; Lipoprotein lipase deficiency ; Hypertriglyceridemia ; Dysbetalipoproteinemia ; Familial hypobetalipoproteinemia ; Abetalipoproteinemia ; Familial combined hypolipidemia ; Chylomicron retention disease ; Tangier disease

刊名：Clinica Chimica Acta

出版年：2016

作者：John R. Burnett^a ; ^b ; ^{john.burnett@health.wa.gov.au" class="auth_mail" title="E-mail the corresponding author} ; Amanda J. Hooper^a ; ^b ; ^c

关键词：ABL ; abetalipoproteinemia ; apoB ; apolipoprotein B ; FHBL ; familial hypobetalipoproteinemia ; HDL ; high density lipoprotein ; HBL ; hypobetalipoproteinemia ; LDL ; low density lipoprotein ; MTP ; microsomal triglyceride transfer protein ; PDI ; protein disulfide isomerase ; VLDL ; very low density lipoprotein

刊名：Free Radical Biology and Medicine

出版年：2015

作者：Amedeo Lonardo^a ; Silvia Sookoian^b ; Carlos J. Pirola^c ; Giovanni Targher^d ; ^{giovanni.targher@univr.it" class="auth_mail" title="E-mail the corresponding author}

关键词：AF ; atrial fibrillation ; CVD ; cardiovascular disease ; FHBL ; familial hypobetalipoproteinemia ; FRS ; Framingham risk score ; GGT ; gamma-glutamyltransferase ; GWAS ; genome wide association study ; HCC ; hepatocellular carcinoma ; MetS ; metabolic syndrome ; NAFLD ; nonalcoholic fatty liver disease ; NASH ; nonalcoholic steatohepatitis ; PA ; physical activity ; PNPLA3 ; patatin-like phospholipase domain containing 3 ; TM6SF2 ; trans-membrane 6 superfamily member 2

刊名：Metabolism

出版年：2016

作者： The non-alcoholic fatty liver disease (NAFLD) study group ; dedicated to the memory of Prof. Paola Loria

关键词：Dyslipidaemia ; Metabolic syndrome ; NAFLD ; Obesity ; Type 2 diabetes mellitus

刊名：Digestive and Liver Disease

出版年：2015

作者：Liesl V. Heeks^a ; Amanda J. Hooper^a ; ^b ; ^c ; Leon A. Adams^b ; ^d ; Peter Robbins^e ; P. Hugh R. Barrett^b ; ^f ; Frank M. van Bockxmeer^a ; ^g ; John R. Burnett^a ; ^b ; ^c ; ^{john.burnett@health.wa.gov.au}

关键词：Familial hypobetalipoproteinaemia ; Non-alcoholic steatohepatitis ; Cirrhosis ; Apolipoprotein B ; LDL-cholesterol

刊名：Clinica Chimica Acta

出版年：2013