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Paul Lee & Robert A Hegele. (2013) Current Phase II proprotein convertase subtilisin/kexin 9 inhibitor therapies for dyslipidemia. Expert Opinion on Investigational Drugs 22:11, pages 1411-1423.
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Amanda J Hooper & John R Burnett. (2013) Anti-PCSK9 therapies for the treatment of hypercholesterolemia. Expert Opinion on Biological Therapy 13:3, pages 429-435.
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Damon A Bell, Amanda J Hooper & John R Burnett. (2011) Mipomersen, an antisense apolipoprotein B synthesis inhibitor. Expert Opinion on Investigational Drugs 20:2, pages 265-272.
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Mogens Fenger. (2007) Heritability And Genetics Of Lipid Metabolism. Future Lipidology 2:4, pages 433-444.
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John R Burnett & Gerald F Watts. (2007) MTP inhibition as a treatment for dyslipidaemias: time to deliver or empty promises?. Expert Opinion on Therapeutic Targets 11:2, pages 181-189.
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John R Burnett & Murray W Huff. (2006) Cholesterol absorption inhibitors as a therapeutic option for hypercholesterolaemia. Expert Opinion on Investigational Drugs 15:11, pages 1337-1351.
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Claire Bordat, Charlotte Cuerq, Charlotte Halimi, Donato Vairo, Emilie Blond, Liora Restier, Pierre Poinsot, Rémi Duclaux-Loras, Noël Peretti & Emmanuelle Reboul. (2023) Carotenoids in familial hypobetalipoproteinemia disorders: Malabsorption in Caco2 cell models and severe deficiency in patients. Journal of Clinical Lipidology.
Crossref
Crossref
Neza Molk, Mojca Bitenc, Darja Urlep, Mojca Zerjav Tansek, Sara Bertok, Katarina Trebusak Podkrajsek, Ursa Sustar, Jernej Kovac, Tadej Battelino, Marusa Debeljak & Urh Groselj. (2023) Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant: a case report and systematic literature review. Frontiers in Medicine 10.
Crossref
Crossref
Stephen J. Babcock, David Flores-Marin & Jay R. Thiagarajah. (2022) The genetics of monogenic intestinal epithelial disorders. Human Genetics 142:5, pages 613-654.
Crossref
Crossref
Ana Catarina Alves, Beatriz Miranda, Oana Moldovan, Raquel Espírito Santo, Raquel Gouveia Silva, Sandra Soares Cardoso, Luísa Diogo, Mónica Seidi, Silvia Sequeira & Mafalda Bourbon. (2023) Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal. Frontiers in Genetics 13.
Crossref
Crossref
Nan Wang, Xuanyu Huang & Qian Long. (2022) Lipid Metabolic-Related Signature CYP19A1 is a Potential Biomarker for Prognosis and Immune Cell Infiltration in Gastric Cancer. Journal of Inflammation Research Volume 15, pages 5075-5088.
Crossref
Crossref
Brandon Jakubowski, Yanqiu Shao, Catherine McNeal, Chao Xing & Zahid Ahmad. (2021) Monogenic and polygenic causes of low and extremely low LDL-C levels in patients referred to specialty lipid clinics: Genetics of low LDL-C. Journal of Clinical Lipidology 15:5, pages 658-664.
Crossref
Crossref
Carine Ayoub, Yara Azar, Yara Abou-Khalil, Youmna Ghaleb, Sandy Elbitar, Georges Halaby, Selim Jambart, Marie-Hélène Gannagé-Yared, Cesar Yaghi, Carole Saade Riachy, Ralph El Khoury, Jean-Pierre Rabès, Mathilde Varret, Catherine Boileau, Petra El Khoury & Marianne Abifadel. (2021) Identification of a Variant in APOB Gene as a Major Cause of Hypobetalipoproteinemia in Lebanese Families. Metabolites 11:9, pages 564.
Crossref
Crossref
Samira Sissaoui, Manon Cochet, Pierre Poinsot, Claire Bordat, Sophie Collardeau-Frachon, Alain Lachaux, Florence Lacaille & Noël Peretti. (2021) Lipids Responsible for Intestinal or Hepatic Disorder. Journal of Pediatric Gastroenterology & Nutrition 73:1, pages 4-8.
Crossref
Crossref
Elena Izkhakov, Yacov Shacham, Merav Serebro, Iris Yaish, Yonit Marcus, Gabi Shefer, Karen Tordjman, Yona Greenman, Naftali Stern & Tomer Ziv-Baran. (2021) The Effect of the PCSK9 Inhibitor Evolocumab on Aldosterone Secretion among High Cardiovascular Risk Patients: A Pilot Study. Journal of Clinical Medicine 10:11, pages 2504.
Crossref
Crossref
Robert A. Hegele. 2021. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics
235
278
.
Alan S. Brown, Ehab G. Dababneh, Adib Chaus, Vadzim Chyzhyk, Victor Marinescu & Nataliya Pyslar. 2021. Therapeutic Lipidology. Therapeutic Lipidology
35
80
.
Hubert Peng, Tzu-Yuan Chiu, Yu-Jen Liang, Chia-Jen Lee, Chih-Syuan Liu, Ching-Shu Suen, Jeffrey J.-Y. Yen, Hung-Ta Chen, Ming-Jing Hwang, M Mahmood Hussain, Hsin-Chou Yang & Hsin-Fang Yang-Yen. (2020) PRAP1 is a novel lipid binding protein that promotes lipid absorption by facilitating MTTP-mediated lipid transport. Journal of Biological Chemistry, pages jbc.RA120.015002.
Crossref
Crossref
Robert A Hegele, Jan Borén, Henry N Ginsberg, Marcello Arca, Maurizio Averna, Christoph J Binder, Laura Calabresi, M John Chapman, Marina Cuchel, Arnold von Eckardstein, Ruth Frikke-Schmidt, Daniel Gaudet, G Kees Hovingh, Florian Kronenberg, Dieter Lütjohann, Klaus G Parhofer, Frederick J Raal, Kausik K Ray, Alan T Remaley, Jane K Stock, Erik S Stroes, Lale Tokgözoğlu & Alberico L Catapano. (2020) Rare dyslipidaemias, from phenotype to genotype to management: a European Atherosclerosis Society task force consensus statement. The Lancet Diabetes & Endocrinology 8:1, pages 50-67.
Crossref
Crossref
Hongwen Zhou, Yingyun Gong, Qinyi Wu, Xuan Ye, Baowen Yu, Chenyan Lu, Wanzi Jiang, Jingya Ye & Zhenzhen Fu. 2020. Lipid Transfer in Lipoprotein Metabolism and Cardiovascular Disease. Lipid Transfer in Lipoprotein Metabolism and Cardiovascular Disease
171
188
.
Ekaterina I. BiterovaMichail N. Isupov, Ronan M. Keegan, Andrey A. Lebedev, Anil A. SohailInam LiaqatHeli I. AlanenLloyd W. Ruddock. (2019) The crystal structure of human microsomal triglyceride transfer protein. Proceedings of the National Academy of Sciences 116:35, pages 17251-17260.
Crossref
Crossref
O. Marmontel, S. Charrière, T. Simonet, V. Bonnet, S. Dumont, M. Mahl, C. Jacobs, S. Nony, K. Chabane, D. Bozon, A. Janin, N. Peretti, A. Lachaux, C. Bardel, G. Millat, P. Moulin, C. Marçais & M. Di Filippo. (2018) Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategy. Clinical Genetics 94:1, pages 132-140.
Crossref
Crossref
Liwei RenYuan SunHong LuDien YeLijuan HanNa WangAlan DaughertyFurong LiMiaomiao WangFengting SuWenjun TaoJie SunNoam ZelcerAdam E. MullickA.H. Jan DanserYizhou JiangYongcheng HeXiongzhong RuanXifeng Lu. (2018) (Pro)renin Receptor Inhibition Reprograms Hepatic Lipid Metabolism and Protects Mice From Diet-Induced Obesity and Hepatosteatosis. Circulation Research 122:5, pages 730-741.
Crossref
Crossref
Chan Joo Lee, Yunbeom Lee, Sungha Park, Seok-Min Kang, Yangsoo Jang, Ji Hyun Lee & Sang-Hak Lee. (2017) Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels. PLOS ONE 12:10, pages e0186446.
Crossref
Crossref
Alessia Di Costanzo, Enza Di Leo, Davide Noto, Angelo Baldassare Cefalù, Ilenia Minicocci, Luca Polito, Laura D'Erasmo, Vito Cantisani, Rossella Spina, Patrizia Tarugi, Maurizio Averna & Marcello Arca. (2017) Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia. Journal of Clinical Lipidology 11:5, pages 1234-1242.
Crossref
Crossref
Rishika De, Shefali S. Verma, Emily Holzinger, Molly Hall, Amber Burt, David S. Carrell, David R. Crosslin, Gail P. Jarvik, Helena Kuivaniemi, Iftikhar J. Kullo, Leslie A. Lange, Matthew B. Lanktree, Eric B. Larson, Kari E. North, Alex P. Reiner, Vinicius Tragante, Gerard Tromp, James G. Wilson, Folkert W. Asselbergs, Fotios Drenos, Jason H. Moore, Marylyn D. Ritchie, Brendan Keating & Diane Gilbert-Diamond. (2016) Identifying gene–gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts. Human Genetics 136:2, pages 165-178.
Crossref
Crossref
T. Mock, K. Mehinagic, F. Menzi, E. Studer, A. Oevermann, M.H. Stoffel, C. Drögemüller, M. Meylan & N. Regenscheit. (2016) Clinicopathological Phenotype of Autosomal Recessive Cholesterol Deficiency in Holstein Cattle. Journal of Veterinary Internal Medicine 30:4, pages 1369-1375.
Crossref
Crossref
I. Ramasamy. (2016) Update on the molecular biology of dyslipidemias. Clinica Chimica Acta 454, pages 143-185.
Crossref
Crossref
John R. Burnett & Amanda J. Hooper. (2015) Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia. Free Radical Biology and Medicine 88, pages 59-62.
Crossref
Crossref
Robert Krysiak, Beata Kowalska, Witold Żmuda & Bogusław Okopień. (2015) The effect of ezetimibe-statin combination on steroid hormone production in men with coronary artery disease and low cholesterol levels. Pharmacological Reports 67:2, pages 305-309.
Crossref
Crossref
Amanda J. HooperJohn R. BurnettGerald F. Watts. (2015) Contemporary Aspects of the Biology and Therapeutic Regulation of the Microsomal Triglyceride Transfer Protein. Circulation Research 116:1, pages 193-205.
Crossref
Crossref
D. Noto, P.M. Tarugi & M.R. Averna. 2015. Reference Module in Biomedical Sciences. Reference Module in Biomedical Sciences.
Amanda J. Hooper & John R. Burnett. 2015. Dyslipidemias. Dyslipidemias
251
266
.
Mathilde Di Filippo, Philippe Moulin, Pascal Roy, Marie Elisabeth Samson-Bouma, Sophie Collardeau-Frachon, Sabrina Chebel-Dumont, No?l Peretti, J?r?me Dumortier, Fabien Zoulim, Thierry Fontanges, Rossella Parini, Miriam Rigoldi, Francesca Furlan, Grazia Mancini, Dominique Bonnefont-Rousselot, Eric Bruckert, Jacques Schmitz, Jean Yves Scoazec, Sybil Charri?re, Sylvie Villar-Fimbel, Frederic Gottrand, B?atrice Dubern, Diane Doummar, Francesca Joly, Marie Elisabeth Liard-Meillon, Alain Lachaux & Agn?s Sassolas. (2014) Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia. Journal of Hepatology 61:4, pages 891-902.
Crossref
Crossref
Sharon A. Miller, John R. Burnett, Mike A. Leonis, C. James McKnight, Frank M. van Bockxmeer & Amanda J. Hooper. (2014) Novel missense MTTP gene mutations causing abetalipoproteinemia. Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids 1841:10, pages 1548-1554.
Crossref
Crossref
Gianluigi Mazzoccoli, Manlio Vinciguerra, Jude Oben, Roberto Tarquini & Salvatore De Cosmo. (2014) Non-alcoholic fatty liver disease: the role of nuclear receptors and circadian rhythmicity. Liver International 34:8, pages 1133-1152.
Crossref
Crossref
Amanda J. Hooper & John R. Burnett. (2014) Update on Primary Hypobetalipoproteinemia. Current Atherosclerosis Reports 16:7.
Crossref
Crossref
Jooho Lee & Robert A. Hegele. (2013) Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. Journal of Inherited Metabolic Disease 37:3, pages 333-339.
Crossref
Crossref
Robert Krysiak & Boguslaw Okopien. (2014) The Effect of Aggressive Rosuvastatin Treatment on Steroid Hormone Production in Men with Coronary Artery Disease. Basic & Clinical Pharmacology & Toxicology 114:4, pages 330-335.
Crossref
Crossref
Ilenia Minicocci, Sara Santini, Vito Cantisani, Nathan Stitziel, Sekar Kathiresan, Juan Antonio Arroyo, Gertrudis Martí, Livia Pisciotta, Davide Noto, Angelo B. Cefalù, Marianna Maranghi, Giancarlo Labbadia, Giovanni Pigna, Fabio Pannozzo, Fabrizio Ceci, Ester Ciociola, Stefano Bertolini, Sebastiano Calandra, Patrizia Tarugi, Maurizio Averna & Marcello Arca. (2013) Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis. Journal of Lipid Research 54:12, pages 3481-3490.
Crossref
Crossref
Mohamed Najah, Sarraj Mohamed Youssef, Hrira Mohamed Yahia, Slimani Afef, Jelassi Awatef, Hammami Saber, Najjar Mohamed Fadhel, Agnès Sassolas & Slimane Mohamed Naceur. (2013) Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene. Diagnostic Pathology 8:1.
Crossref
Crossref
Amanda J Hooper & John R Burnett. 2005. Encyclopedia of Life Sciences. Encyclopedia of Life Sciences.
N. Erwin Ivessa, Edward Rehberg, Bernadette Kienzle, Fridolin Seif, Robert Hermann, Marcela Hermann, Wolfgang J. Schneider & David A. Gordon. (2013) Molecular cloning, expression, and hormonal regulation of the chicken microsomal triglyceride transfer protein. Gene 523:1, pages 1-9.
Crossref
Crossref
Dorothy Nulty. (2013) Knee pain: An unanticipated finding related to a rare genetic disorder-Abetalipoproteinemia. Journal of the American Association of Nurse Practitioners 25:6, pages 297-301.
Crossref
Crossref
Liesl V. Heeks, Amanda J. Hooper, Leon A. Adams, Peter Robbins, P. Hugh R. Barrett, Frank M. van Bockxmeer & John R. Burnett. (2013) Non-alcoholic steatohepatitis-related cirrhosis in a patient with APOB L343V familial hypobetalipoproteinaemia. Clinica Chimica Acta 421, pages 121-125.
Crossref
Crossref
Amanda J. Hooper & John R. Burnett. (2013) Recent developments in the genetics of LDL deficiency. Current Opinion in Lipidology 24:2, pages 111-115.
Crossref
Crossref
Joost Besseling, Julian van Capelleveen, John J. P. Kastelein & G. Kees Hovingh. (2013) LDL Cholesterol Goals in High-Risk Patients: How Low Do We Go and How Do We Get There?. Drugs 73:4, pages 293-301.
Crossref
Crossref
Lucia Magnolo, Mohamed Najah, Tatiana Fancello, Enza Di Leo, Elisa Pinotti, Ines Brini, Neji M. Gueddiche, Sebastiano Calandra, Naceur M. Slimene & Patrizia Tarugi. (2013) Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia. Gene 512:1, pages 28-34.
Crossref
Crossref
Robert A. Hegele. 2013. Emery and Rimoin's Principles and Practice of Medical Genetics. Emery and Rimoin's Principles and Practice of Medical Genetics
1
33
.
John R Burnett, Damon A Bell, Amanda J Hooper & Robert A Hegele. (2012) Clinical utility gene card for: Familial Hypobetalipoproteinaemia (APOB). European Journal of Human Genetics 20:8, pages 3-3.
Crossref
Crossref
John R Burnett, Damon A Bell, Amanda J Hooper & Robert A Hegele. (2012) Clinical utility gene card for: Abetalipoproteinaemia. European Journal of Human Genetics 20:8, pages 1-3.
Crossref
Crossref
Anne Gangloff, Jean Bergeron, Patrick Couture, Rebecca Martins, Robert A. Hegele & Claude Gagné. (2011) A novel mutation of apolipoprotein B in a French Canadian family with homozygous hypobetalipoproteinemia. Journal of Clinical Lipidology 5:5, pages 414-417.
Crossref
Crossref
Jaime A. Yáñez, Stephen W.J. Wang, Ian W. Knemeyer, Mark A. Wirth & Kevin B. Alton. (2011) Intestinal lymphatic transport for drug delivery. Advanced Drug Delivery Reviews 63:10-11, pages 923-942.
Crossref
Crossref
Amanda J. Hooper, Leon A. Adams & John R. Burnett. (2011) Genetic determinants of hepatic steatosis in man. Journal of Lipid Research 52:4, pages 593-617.
Crossref
Crossref
Patrizia Tarugi & Maurizio Averna. 2011.
81
107
.
Kiran Musunuru, James P. Pirruccello, Ron Do, Gina M. Peloso, Candace Guiducci, Carrie Sougnez, Kiran V. Garimella, Sheila Fisher, Justin Abreu, Andrew J. Barry, Tim Fennell, Eric Banks, Lauren Ambrogio, Kristian Cibulskis, Andrew Kernytsky, Elena Gonzalez, Nicholas Rudzicz, James C. Engert, Mark A. DePristo, Mark J. Daly, Jonathan C. Cohen, Helen H. Hobbs, David Altshuler, Gustav Schonfeld, Stacey B. Gabriel, Pin Yue & Sekar Kathiresan. (2010)
Exome Sequencing,
ANGPTL3
Mutations, and Familial Combined Hypolipidemia
. New England Journal of Medicine 363:23, pages 2220-2227.
Crossref
Crossref
Mads Kjolby, Olav M. Andersen, Tilman Breiderhoff, Anja W. Fjorback, Karen Marie Pedersen, Peder Madsen, Pernille Jansen, Joerg Heeren, Thomas E. Willnow & Anders Nykjaer. (2010) Sort1, Encoded by the Cardiovascular Risk Locus 1p13.3, Is a Regulator of Hepatic Lipoprotein Export. Cell Metabolism 12:3, pages 213-223.
Crossref
Crossref
M Bove, L Carnevali, A Cicero, P Tarugi & A Gaddi. (2010) Novel Mutation in the Apob Gene (Apo B-15.56): A Case Report. Balkan Journal of Medical Genetics 13:2.
Crossref
Crossref
Murat O. Arcasoy & Patrick G. Gallagher. 2010. Molecular Pathology of Hematolymphoid Diseases. Molecular Pathology of Hematolymphoid Diseases
473
497
.
B. Cariou, K. Ouguerram, Y. Zair, R. Guerois, C. Langhi, S. Kourimate, I. Benoit, C. Le May, C. Gayet, K. Belabbas, F. Dufernez, M. Chetiveaux, P. Tarugi, M. Krempf, P. Benlian & P. Costet. (2009) PCSK9 Dominant Negative Mutant Results in Increased LDL Catabolic Rate and Familial Hypobetalipoproteinemia. Arteriosclerosis, Thrombosis, and Vascular Biology 29:12, pages 2191-2197.
Crossref
Crossref
Abdulhadi I Bima, Amanda J Hooper, Frank M van Bockxmeer & John R Burnett. (2009) Hypobetalipoproteinaemia secondary to chronic hepatitis C virus infection in a patient with familial hypercholesterolaemia. Annals of Clinical Biochemistry: International Journal of Laboratory Medicine 46:5, pages 420-422.
Crossref
Crossref
Laurence Chardon, Agnès Sassolas, Bernard Dingeon, Laurence Michel-Calemard, Michel Bovier-Lapierre, Philippe Moulin & Alain Lachaux. (2008) Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases. European Journal of Pediatrics 168:8, pages 983-989.
Crossref
Crossref
Mohamed Najah, Enza Di Leo, Jelassi Awatef, Lucia Magnolo, Jgurim Imene, Elisa Pinotti, Mahjoub Bahri, Sihem Barsaoui, Ines Brini, Moncef Fekih, Mohamed Naceur Slimane & Patrizia Tarugi. (2009) Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia. Clinica Chimica Acta 401:1-2, pages 51-56.
Crossref
Crossref
Enza Di Leo, Lucia Magnolo, Elisa Pinotti, Scipione Martini, Irene Cortella, Nicola Vitturi, Claudio Rabacchi, Alessia Wunsch, Francesco Pucci, Stefano Bertolini, Sebastiano Calandra & Patrizia Tarugi. (2009) Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia. Molecular Genetics and Metabolism 96:2, pages 66-72.
Crossref
Crossref
Francine SiroisElias GbehaAmbaliou SanniMichel ChretienDamian LabudaMajambu Mbikay. (2008) Ethnic Differences in the Frequency of the Cardioprotective C679X PCSK9 Mutation in a West African Population. Genetic Testing 12:3, pages 377-380.
Crossref
Crossref
Dawn E. Telford & Murray W. Huff. (2008) Postprandial hyperlipidemia: Cardiovascular implications and treatment options. Canadian Journal of Cardiology 24, pages 32C-37C.
Crossref
Crossref
Amanda J. Hooper, Baris Akinci, Abdurrahman Comlekci & John R. Burnett. (2008) Familial hypobetalipoproteinemia in a Turkish family with hereditary spastic paraplegia. Clinica Chimica Acta 390:1-2, pages 152-155.
Crossref
Crossref
Amit R. Rahalkar & Robert A. Hegele. (2008) Monogenic pediatric dyslipidemias: Classification, genetics and clinical spectrum. Molecular Genetics and Metabolism 93:3, pages 282-294.
Crossref
Crossref
V. Charlton-Menys & P. N. Durrington. (2008) Human cholesterol metabolism and therapeutic molecules. Experimental Physiology 93:1, pages 27-42.
Crossref
Crossref
Faramarz Naeim. 2008. Hematopathology. Hematopathology
529
565
.
Patrizia Tarugi & Maurizio Averna. (2007) Genetics of familial hypobetalipoproteinemia. Future Lipidology 2:6, pages 615-624.
Crossref
Crossref
Patrizia Tarugi, Maurizio Averna, Enza Di Leo, Angelo B. Cefal?Davide Noto, Lucia Magnolo, Luigi Cattin, Stefano Bertolini & Sebastiano Calandra. (2007) Molecular diagnosis of hypobetalipoproteinemia: An ENID review. Atherosclerosis 195:2, pages e19-e27.
Crossref
Crossref
J. Mark Brown, Soonkyu Chung, Akash Das, Gregory S. Shelness, Lawrence L. Rudel & Liqing Yu. (2007) CGI-58 facilitates the mobilization of cytoplasmic triglyceride for lipoprotein secretion in hepatoma cells. Journal of Lipid Research 48:10, pages 2295-2305.
Crossref
Crossref
John R. Burnett, Shumei Zhong, Zhenghui G. Jiang, Amanda J. Hooper, Eric A. Fisher, Roger S. McLeod, Yang Zhao, P. Hugh R. Barrett, Robert A. Hegele, Frank M. van Bockxmeer, Hongyu Zhang, Dennis E. Vance, C. James McKnight & Zemin Yao. (2007) Missense Mutations in APOB within the βα1 Domain of Human APOB-100 Result in Impaired Secretion of ApoB and ApoB-containing Lipoproteins in Familial Hypobetalipoproteinemia. Journal of Biological Chemistry 282:33, pages 24270-24283.
Crossref
Crossref
Amanda J. Hooper, A. David Marais, Donald M. Tanyanyiwa & John R. Burnett. (2007) The C679X mutation in PCSK9 is present and lowers blood cholesterol in a Southern African population. Atherosclerosis 193:2, pages 445-448.
Crossref
Crossref
Amanda J. Hooper, Ken Robertson, P. Hugh R. Barrett, Klaus G. Parhofer, Frank M. van Bockxmeer & John R. Burnett. (2007) Postprandial Lipoprotein Metabolism in Familial Hypobetalipoproteinemia. The Journal of Clinical Endocrinology & Metabolism 92:4, pages 1474-1478.
Crossref
Crossref
Tommaso FasanoAngelo B. CefalùEnza Di LeoDavide NotoDaniela PollacciaLetizia BocchiVincenza ValentiRenato BonardiOrnella GuardamagnaMaurizio AvernaPatrizia Tarugi. (2007)
A Novel Loss of Function Mutation of
PCSK9
Gene in White Subjects With Low-Plasma Low-Density Lipoprotein Cholesterol
. Arteriosclerosis, Thrombosis, and Vascular Biology 27:3, pages 677-681.
Crossref
Crossref
Klaus G. Parhofer & P. Hugh R. Barrett. (2006) Thematic review series: Patient-Oriented Research. What we have learned about VLDL and LDL metabolism from human kinetics studies. Journal of Lipid Research 47:8, pages 1620-1630.
Crossref
Crossref
Michael W Clarke, Amanda J Hooper, Henrietta A Headlam, Jason HY Wu, Kevin D Croft & John R Burnett. (2006) Assessment of Tocopherol Metabolism and Oxidative Stress in Familial Hypobetalipoproteinemia. Clinical Chemistry 52:7, pages 1339-1345.
Crossref
Crossref