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Results: 1 to 20 of 31

1.

Diagnosis and management of familial dyslipoproteinemias.

Kwiterovich PO Jr.

Curr Cardiol Rep. 2013 Jun;15(6):371. doi: 10.1007/s11886-013-0371-5. Review.

PMID:
23666884
[PubMed - indexed for MEDLINE]
2.

Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E.

Baumgartner MR.

Handb Clin Neurol. 2013;113:1799-810. doi: 10.1016/B978-0-444-59565-2.00049-6. Review.

PMID:
23622402
[PubMed - indexed for MEDLINE]
3.

Inhibitory effects of in vivo oxidized high-density lipoproteins on platelet aggregation: evidence from patients with abetalipoproteinemia.

Calzada C, Véricel E, Colas R, Guillot N, El Khoury G, Drai J, Sassolas A, Peretti N, Ponsin G, Lagarde M, Moulin P.

FASEB J. 2013 Jul;27(7):2855-61. doi: 10.1096/fj.12-225169. Epub 2013 Mar 18.

PMID:
23507868
[PubMed - indexed for MEDLINE]
Free Article
4.

Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.

Khatun I, Walsh MT, Hussain MM.

J Lipid Res. 2013 Jun;54(6):1541-9. doi: 10.1194/jlr.M031658. Epub 2013 Mar 8.

PMID:
23475612
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Chronic adrenal failure and hypergonadotropic hypogonadism in a patient with abetalipoproteinemia.

Krysiak R, Okopie B.

Eur Rev Med Pharmacol Sci. 2012 Oct;16 Suppl 4:95-7.

PMID:
23090820
[PubMed - indexed for MEDLINE]
6.

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 1;512(1):28-34. doi: 10.1016/j.gene.2012.09.117. Epub 2012 Oct 6.

PMID:
23043934
[PubMed - indexed for MEDLINE]
7.

Role of the gut in lipid homeostasis.

Abumrad NA, Davidson NO.

Physiol Rev. 2012 Jul;92(3):1061-85. doi: 10.1152/physrev.00019.2011. Review.

PMID:
22811425
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.

Di Filippo M, Créhalet H, Samson-Bouma ME, Bonnet V, Aggerbeck LP, Rabès JP, Gottrand F, Luc G, Bozon D, Sassolas A.

J Lipid Res. 2012 Mar;53(3):548-55. doi: 10.1194/jlr.M020024. Epub 2012 Jan 11.

PMID:
22236406
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia.

Aminoff A, Gunnar E, Barbaro M, Mannila MN, Duponchel C, Tosi M, Robinson KL, Hernell O, Ehrenborg E.

Clin Genet. 2012 Aug;82(2):197-200. doi: 10.1111/j.1399-0004.2011.01828.x. Epub 2011 Dec 29. No abstract available. Erratum in: Clin Genet. 2012 Aug;82(2):204.

PMID:
22150066
[PubMed - indexed for MEDLINE]
10.

Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence.

Okada T, Miyashita M, Fukuhara J, Sugitani M, Ueno T, Samson-Bouma ME, Aggerbeck LP.

Orphanet J Rare Dis. 2011 Nov 21;6:78. doi: 10.1186/1750-1172-6-78.

PMID:
22104167
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Neuroacanthocytosis syndromes.

Jung HH, Danek A, Walker RH.

Orphanet J Rare Dis. 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68. Review.

PMID:
22027213
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum.

Tarugi P, Averna M.

Adv Clin Chem. 2011;54:81-107. Review.

PMID:
21874758
[PubMed - indexed for MEDLINE]
13.

Ataxia with vitamin E deficiency and abetalipoproteinemia.

Hentati F, El-Euch G, Bouhlal Y, Amouri R.

Handb Clin Neurol. 2012;103:295-305. doi: 10.1016/B978-0-444-51892-7.00018-8. Review. No abstract available.

PMID:
21827896
[PubMed - indexed for MEDLINE]
14.

The diagnosis and outcomes of persistent diarrhea in infants aged 0-24 months--a Turkish cohort study.

Eğrıtaş O, Sari S, Dalgiç B, Poyraz A, Ensarı A.

Turk J Gastroenterol. 2011 Jun;22(3):260-9.

PMID:
21805416
[PubMed - indexed for MEDLINE]
15.

Red cells in abetalipoproteinemia.

Ozsoylu S.

Turk J Pediatr. 2011 Jan-Feb;53(1):119. No abstract available.

PMID:
21534356
[PubMed - indexed for MEDLINE]
16.

Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia.

Sani MN, Sabbaghian M, Mahjoob F, Cefalù AB, Averna MR, Rezaei N.

Ann Hepatol. 2011 Apr-Jun;10(2):221-6.

PMID:
21502686
[PubMed - indexed for MEDLINE]
17.

Disc swelling in abetalipoproteinemia: a novel feature of Bassen-Kornzweig syndrome.

Nasr MB, Symeonidis C, Mikropoulos DG, Kozeis N, Tsinopoulos I, Dimitrakos SA, Konstas AG.

Eur J Ophthalmol. 2011 Sep-Oct;21(5):674-6. doi: 10.5301/EJO.2011.6519.

PMID:
21484752
[PubMed - indexed for MEDLINE]
18.

Rickets and dysmorphic findings in a child with abetalipoproteinemia.

Al-Mendalawi MD.

Saudi Med J. 2011 Apr;32(4):428; author reply 428. No abstract available.

PMID:
21484009
[PubMed - indexed for MEDLINE]
19.

New lipid modulating drugs: the role of microsomal transport protein inhibitors.

Rizzo M, Wierzbicki AS.

Curr Pharm Des. 2011;17(9):943-9. Review.

PMID:
21418029
[PubMed - indexed for MEDLINE]
20.

A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP).

Pons V, Rolland C, Nauze M, Danjoux M, Gaibelet G, Durandy A, Sassolas A, Lévy E, Tercé F, Collet X, Mas E.

Hum Mutat. 2011 Jul;32(7):751-9. doi: 10.1002/humu.21494. Epub 2011 Jun 14. Erratum in: Hum Mutat. 2011 Oct;32(10):1191-6.

PMID:
21394827
[PubMed - indexed for MEDLINE]

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