These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. Decreased production rates of VLDL triglycerides and ApoB-100 in subjects heterozygous for familial hypobetalipoproteinemia. Elias N; Patterson BW; Schonfeld G Arterioscler Thromb Vasc Biol; 1999 Nov; 19(11):2714-21. PubMed ID: 10559016 [TBL] [Abstract][Full Text] [Related]
5. Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia. Conca P; Pileggi S; Simonelli S; Boer E; Boscutti G; Magnolo L; Tarugi P; Penco S; Franceschini G; Calabresi L; Gomaraschi M J Clin Lipidol; 2012; 6(3):244-50. PubMed ID: 22658148 [TBL] [Abstract][Full Text] [Related]
6. Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B. Yilmaz BS; Mungan NO; Di Leo E; Magnolo L; Artuso L; Bernardis I; Tumgor G; Kor D; Tarugi P Clin Chim Acta; 2016 Jan; 452():185-90. PubMed ID: 26612772 [TBL] [Abstract][Full Text] [Related]
7. Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia. Di Costanzo A; Di Leo E; Noto D; Cefalù AB; Minicocci I; Polito L; D'Erasmo L; Cantisani V; Spina R; Tarugi P; Averna M; Arca M J Clin Lipidol; 2017; 11(5):1234-1242. PubMed ID: 28733173 [TBL] [Abstract][Full Text] [Related]
8. [Homozygous familial hypobetalipoproteinemia caused by APOB gene variations: a case report and review of literature]. Zhang YQ; Wang JS Zhonghua Er Ke Za Zhi; 2023 Jan; 61(1):70-75. PubMed ID: 36594125 [No Abstract] [Full Text] [Related]
9. Apolipoprotein B gene mutations and fatty liver in Japanese hypobetalipoproteinemia. Katsuda S; Kawashiri MA; Inazu A; Tada H; Tsuchida M; Kaneko Y; Nozue T; Nohara A; Okada T; Kobayashi J; Michishita I; Mabuchi H; Yamagishi M Clin Chim Acta; 2009 Jan; 399(1-2):64-8. PubMed ID: 18848826 [TBL] [Abstract][Full Text] [Related]
10. Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia. Di Filippo M; Moulin P; Roy P; Samson-Bouma ME; Collardeau-Frachon S; Chebel-Dumont S; Peretti N; Dumortier J; Zoulim F; Fontanges T; Parini R; Rigoldi M; Furlan F; Mancini G; Bonnefont-Rousselot D; Bruckert E; Schmitz J; Scoazec JY; Charrière S; Villar-Fimbel S; Gottrand F; Dubern B; Doummar D; Joly F; Liard-Meillon ME; Lachaux A; Sassolas A J Hepatol; 2014 Oct; 61(4):891-902. PubMed ID: 24842304 [TBL] [Abstract][Full Text] [Related]
11. A Family with Familial Hypobetalipoproteinemia Caused by a c.1468C>T in APOB. Tada H; Kojima N; Nomura A; Takamura M Intern Med; 2024 Oct; 63(19):2637-2640. PubMed ID: 38369355 [TBL] [Abstract][Full Text] [Related]
12. Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations. Di Leo E; Magnolo L; Bertolotti M; Bourbon M; Carmo Pereira S; Pirisi M; Calandra S; Tarugi P Clin Genet; 2008 Sep; 74(3):267-73. PubMed ID: 18492086 [TBL] [Abstract][Full Text] [Related]
13. Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia. Whitfield AJ; Marais AD; Robertson K; Barrett PH; van Bockxmeer FM; Burnett JR Hum Mutat; 2003 Aug; 22(2):178. PubMed ID: 12872264 [TBL] [Abstract][Full Text] [Related]
14. Pediatric gallstone disease in familial hypobetalipoproteinemia. Lancellotti S; Zaffanello M; Di Leo E; Costa L; Lonardo A; Tarugi P J Hepatol; 2005 Jul; 43(1):188-91. PubMed ID: 15894400 [TBL] [Abstract][Full Text] [Related]
15. Familial hypobetalipoproteinemia: genetics and metabolism. Schonfeld G; Lin X; Yue P Cell Mol Life Sci; 2005 Jun; 62(12):1372-8. PubMed ID: 15818469 [TBL] [Abstract][Full Text] [Related]
16. The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations. Di Leo E; Eminoglu T; Magnolo L; Bolkent MG; Tümer L; Okur I; Tarugi P J Clin Lipidol; 2015; 9(3):400-5. PubMed ID: 26073401 [TBL] [Abstract][Full Text] [Related]
17. A gene-targeted mouse model for familial hypobetalipoproteinemia. Low levels of apolipoprotein B mRNA in association with a nonsense mutation in exon 26 of the apolipoprotein B gene. Kim E; Ambroziak P; Véniant MM; Hamilton RL; Young SG J Biol Chem; 1998 Dec; 273(51):33977-84. PubMed ID: 9852051 [TBL] [Abstract][Full Text] [Related]
18. Novel APOB mutation in familial hypobetalipoproteinemia. Domenech M; Llano-Rivas I; Arroyo V; Ortega E J Clin Lipidol; 2022; 16(1):28-32. PubMed ID: 34852964 [No Abstract] [Full Text] [Related]
19. Four new mutations in the apolipoprotein B gene causing hypobetalipoproteinemia, including two different frameshift mutations that yield truncated apolipoprotein B proteins of identical length. Young SG; Pullinger CR; Zysow BR; Hofmann-Radvani H; Linton MF; Farese RV; Terdiman JF; Snyder SM; Grundy SM; Vega GL J Lipid Res; 1993 Mar; 34(3):501-7. PubMed ID: 8468533 [TBL] [Abstract][Full Text] [Related]
20. Homozygous familial hypobetalipoproteinemia: two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature. Cefalù AB; Norata GD; Ghiglioni DG; Noto D; Uboldi P; Garlaschelli K; Baragetti A; Spina R; Valenti V; Pederiva C; Riva E; Terracciano L; Zoja A; Grigore L; Averna MR; Catapano AL Atherosclerosis; 2015 Mar; 239(1):209-17. PubMed ID: 25618028 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]