138 related articles for article (PubMed ID: 17517208)
1. [Familial hypobetalipoproteinemia secondary to a mutation in the apolipoprotein B gene].
Blanco-Rodríguez M; Muñoz-Calvo MT; Martos-Moreno GA; Abad-Pérez E; Argente-Oliver J
An Pediatr (Barc); 2007 May; 66(5):535-7. PubMed ID: 17517208
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Lipoprotein Metabolism in APOB L343V Familial Hypobetalipoproteinemia.
Hooper AJ; Heeks L; Robertson K; Champain D; Hua J; Song S; Parhofer KG; Barrett PH; van Bockxmeer FM; Burnett JR
J Clin Endocrinol Metab; 2015 Nov; 100(11):E1484-90. PubMed ID: 26323024
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. [Familial hypobetalipoproteinemia: clinical characterization of a new mutation in the APOB gene].
Iglesias P; Díez JJ; Tarugi P
Med Clin (Barc); 2009 Jun; 133(2):57-60. PubMed ID: 19442995
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Molecular analysis of APOB, SAR1B, ANGPTL3, and MTTP in patients with primary hypocholesterolemia in a clinical laboratory setting: Evidence supporting polygenicity in mutation-negative patients.
Blanco-Vaca F; Martin-Campos JM; Beteta-Vicente Á; Canyelles M; Martínez S; Roig R; Farré N; Julve J; Tondo M
Atherosclerosis; 2019 Apr; 283():52-60. PubMed ID: 30782561
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia.
Di Leo E; Magnolo L; Pinotti E; Martini S; Cortella I; Vitturi N; Rabacchi C; Wunsch A; Pucci F; Bertolini S; Calandra S; Tarugi P
Mol Genet Metab; 2009 Feb; 96(2):66-72. PubMed ID: 19084451
[TBL] [Abstract][Full Text] [Related]
10. Familial hypobetalipoproteinemia caused by a mutation in the apolipoprotein B gene that results in a truncated species of apolipoprotein B (B-31). A unique mutation that helps to define the portion of the apolipoprotein B molecule required for the formation of buoyant, triglyceride-rich lipoproteins.
Young SG; Hubl ST; Smith RS; Snyder SM; Terdiman JF
J Clin Invest; 1990 Mar; 85(3):933-42. PubMed ID: 2312735
[TBL] [Abstract][Full Text] [Related]
11. Familial hypobetalipoproteinemia: analysis of three Spanish cases with two new mutations in the APOB gene.
Martín-Morales R; García-Díaz JD; Tarugi P; González-Santos P; Saavedra-Vallejo P; Magnolo L; Mesa-Latorre JM; di Leo E; Valdivielso P
Gene; 2013 Nov; 531(1):92-6. PubMed ID: 24001780
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Hypobetalipoproteinemia and abetalipoproteinemia.
Welty FK
Curr Opin Lipidol; 2014 Jun; 25(3):161-8. PubMed ID: 24751931
[TBL] [Abstract][Full Text] [Related]
15. Two apolipoprotein B gene defects in a kindred with hypobetalipoproteinemia, one of which results in a truncated variant, apoB-61, in VLDL and LDL.
Pullinger CR; Hillas E; Hardman DA; Chen GC; Naya-Vigne JM; Iwasa JA; Hamilton RL; Lalouel JM; Williams RR; Kane JP
J Lipid Res; 1992 May; 33(5):699-710. PubMed ID: 1619363
[TBL] [Abstract][Full Text] [Related]
16. Asymptomatic homozygous hypobetalipoproteinemia associated with apolipoprotein B45.2.
Young SG; Bihain B; Flynn LM; Sanan DA; Ayrault-Jarrier M; Jacotot B
Hum Mol Genet; 1994 May; 3(5):741-4. PubMed ID: 8081360
[TBL] [Abstract][Full Text] [Related]
17. Familial hypobetalipoproteinemia due to apolipoprotein B R463W mutation causes intestinal fat accumulation and low postprandial lipemia.
Noto D; Cefalù AB; Cannizzaro A; Minà M; Fayer F; Valenti V; Barbagallo CM; Tuttolomondo A; Pinto A; Sciumè C; Licata G; Averna M
Atherosclerosis; 2009 Sep; 206(1):193-8. PubMed ID: 19344897
[TBL] [Abstract][Full Text] [Related]
18. Familial ApoB-specific familial hypobetalipoproteinemia in a patient with non-classical congenital adrenal hyperplasia.
Ramos Bachiller B; Luque-Ramírez M; Rodríguez-Jiménez C; Arrieta Blanco FJ
Clin Investig Arterioscler; 2024; 36(3):128-132. PubMed ID: 38195282
[TBL] [Abstract][Full Text] [Related]
19. Dysbetalipoproteinemia in a kindred with hypobetalipoproteinemia due to mutations in the genes for ApoB (ApoB-70.5) and ApoE (ApoE2).
Groenewegen WA; Krul ES; Averna MR; Pulai J; Schonfeld G
Arterioscler Thromb; 1994 Nov; 14(11):1695-704. PubMed ID: 7947592
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]