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2. Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia. Najah M; Di Leo E; Awatef J; Magnolo L; Imene J; Pinotti E; Bahri M; Barsaoui S; Brini I; Fekih M; Slimane MN; Tarugi P Clin Chim Acta; 2009 Mar; 401(1-2):51-6. PubMed ID: 19056372 [TBL] [Abstract][Full Text] [Related]
3. Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia. Magnolo L; Najah M; Fancello T; Di Leo E; Pinotti E; Brini I; Gueddiche NM; Calandra S; Slimene NM; Tarugi P Gene; 2013 Jan; 512(1):28-34. PubMed ID: 23043934 [TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects. Walsh MT; Di Leo E; Okur I; Tarugi P; Hussain MM Biochim Biophys Acta; 2016 Nov; 1861(11):1623-1633. PubMed ID: 27487388 [TBL] [Abstract][Full Text] [Related]
8. Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia. Di Leo E; Lancellotti S; Penacchioni JY; Cefalù AB; Averna M; Pisciotta L; Bertolini S; Calandra S; Gabelli C; Tarugi P Atherosclerosis; 2005 Jun; 180(2):311-8. PubMed ID: 15910857 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. A mild case of abetalipoproteinaemia in association with subclinical hypothyroidism. Al-Mahdili HA; Hooper AJ; Sullivan DR; Stewart PM; Burnett JR Ann Clin Biochem; 2006 Nov; 43(Pt 6):516-9. PubMed ID: 17132287 [TBL] [Abstract][Full Text] [Related]
11. [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]
12. Molecular diagnosis of hypobetalipoproteinemia: an ENID review. Tarugi P; Averna M; Di Leo E; Cefalù AB; Noto D; Magnolo L; Cattin L; Bertolini S; Calandra S Atherosclerosis; 2007 Dec; 195(2):e19-27. PubMed ID: 17570373 [TBL] [Abstract][Full Text] [Related]
13. Genetic variants of ApoE account for variability of plasma low-density lipoprotein and apolipoprotein B levels in FHBL. Yue P; Isley WL; Harris WS; Rosipal S; Akin CD; Schonfeld G Atherosclerosis; 2005 Jan; 178(1):107-13. PubMed ID: 15585207 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. The c.419-420insA in the MTP gene is associated with abetalipoproteinemia among French-Canadians. Berthier MT; Couture P; Houde A; Paradis AM; Sammak A; Verner A; Deprés JP; Gagné C; Gaudet D; Vohl MC Mol Genet Metab; 2004 Feb; 81(2):140-3. PubMed ID: 14741197 [TBL] [Abstract][Full Text] [Related]
17. Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene. Najah M; Youssef SM; Yahia HM; Afef S; Awatef J; Saber H; Fadhel NM; Sassolas A; Naceur SM Diagn Pathol; 2013 Apr; 8():54. PubMed ID: 23556456 [TBL] [Abstract][Full Text] [Related]
18. Monogenic hypocholesterolaemic lipid disorders and apolipoprotein B metabolism. Hooper AJ; van Bockxmeer FM; Burnett JR Crit Rev Clin Lab Sci; 2005; 42(5-6):515-45. PubMed ID: 16390683 [TBL] [Abstract][Full Text] [Related]
20. Abetalipoproteinemia in an infant with severe clinical phenotype and a novel mutation. Uslu N; Gürakan F; Yüce A; Demir H; Tarugi P Turk J Pediatr; 2010; 52(1):73-7. PubMed ID: 20402070 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]