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Items: 1 to 20 of 90

1.

Chylomicron retention disease.

Desaldeleer C, Henno S, Bruneau B, Dabadie A.

Dig Liver Dis. 2013 Feb;45(2):e3. doi: 10.1016/j.dld.2012.08.003. Epub 2012 Sep 5. No abstract available.

PMID:
22959141
2.

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.

3.

Studying lipoprotein trafficking in zebrafish, the case of chylomicron retention disease.

Schlegel A.

J Mol Med (Berl). 2015 Feb;93(2):115-8. doi: 10.1007/s00109-014-1248-9. No abstract available.

PMID:
25572701
4.

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
5.

Novel missense mutations of SAR1B gene in an infant with chylomicron retention disease.

Treepongkaruna S, Chongviriyaphan N, Suthutvoravut U, Charoenpipop D, Choubtum L, Wattanasirichaigoon D.

J Pediatr Gastroenterol Nutr. 2009 Mar;48(3):370-3. No abstract available.

PMID:
19274794
6.

Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene.

Cefalù AB, Calvo PL, Noto D, Baldi M, Valenti V, Lerro P, Tramuto F, Lezo A, Morra I, Cenacchi G, Barbera C, Averna MR.

Metabolism. 2010 Apr;59(4):463-7. doi: 10.1016/j.metabol.2009.07.042. Epub 2009 Oct 20.

PMID:
19846172
7.

Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease).

Georges A, Bonneau J, Bonnefont-Rousselot D, Champigneulle J, Rabès JP, Abifadel M, Aparicio T, Guenedet JC, Bruckert E, Boileau C, Morali A, Varret M, Aggerbeck LP, Samson-Bouma ME.

Orphanet J Rare Dis. 2011 Jan 14;6:1. doi: 10.1186/1750-1172-6-1.

8.

Low rate of production of apolipoproteins B100 and AI in 2 patients with Anderson disease (chylomicron retention disease).

Ouguerram K, Zaïr Y, Kasbi-Chadli F, Nazih H, Bligny D, Schmitz J, Aparicio T, Chétiveaux M, Magot T, Aggerbeck LP, Samson-Bouma ME, Krempf M.

Arterioscler Thromb Vasc Biol. 2012 Jun;32(6):1520-5. doi: 10.1161/ATVBAHA.112.245076. Epub 2012 Mar 22.

9.

An infant with vomiting, diarrhea, and failure to thrive. Chylomicron retention disease.

Mouzaki M, Vresk L, Gonska T.

Gastroenterology. 2014 Apr;146(4):912, 1137-8. doi: 10.1053/j.gastro.2013.11.035. Epub 2014 Feb 19. No abstract available.

PMID:
24560855
10.

Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers.

Peretti N, Sassolas A, Roy CC, Deslandres C, Charcosset M, Castagnetti J, Pugnet-Chardon L, Moulin P, Labarge S, Bouthillier L, Lachaux A, Levy E; Department of Nutrition-Hepatogastroenterology, Hôpital Femme Mère Enfant, Bron, Université Lyon 1; Department of Pediatrics, CHU Sainte-Justine Research Center, Université de Montréal.

Orphanet J Rare Dis. 2010 Sep 29;5:24. doi: 10.1186/1750-1172-5-24. Review.

11.

Anderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities.

Silvain M, Bligny D, Aparicio T, Laforêt P, Grodet A, Peretti N, Ménard D, Djouadi F, Jardel C, Bégué JM, Walker F, Schmitz J, Lachaux A, Aggerbeck LP, Samson-Bouma ME.

Clin Genet. 2008 Dec;74(6):546-52. doi: 10.1111/j.1399-0004.2008.01069.x. Epub 2008 Sep 11.

PMID:
18786134
12.

Animal model of Sar1b deficiency presents lipid absorption deficits similar to Anderson disease.

Levic DS, Minkel JR, Wang WD, Rybski WM, Melville DB, Knapik EW.

J Mol Med (Berl). 2015 Feb;93(2):165-76. doi: 10.1007/s00109-014-1247-x. Epub 2015 Jan 7.

13.

Chylomicron retention disease--the role of ultrastructural examination in differential diagnosis.

Boldrini R, Biselli R, Bosman C.

Pathol Res Pract. 2001;197(11):753-7.

PMID:
11770019
14.

Chylomicron retention disease: report of two cases from a Greek Island.

Papadogeorgou P, Roma E, Sassolas A, Orfanou I, Malliarou A, Sakka S, Chouliaras G.

J Pediatr Endocrinol Metab. 2012;25(11-12):1191-4. doi: 10.1515/jpem-2012-0243.

PMID:
23329770
15.

Intestinal biopsy in childhood.

Townley RR, Barnes GL.

Arch Dis Child. 1973 Jun;48(6):480-2. No abstract available.

16.

Anderson's disease: exclusion of apolipoprotein and intracellular lipid transport genes.

Dannoura AH, Berriot-Varoqueaux N, Amati P, Abadie V, Verthier N, Schmitz J, Wetterau JR, Samson-Bouma ME, Aggerbeck LP.

Arterioscler Thromb Vasc Biol. 1999 Oct;19(10):2494-508.

17.

Infantile refsum disease: gastrointestinal presentation of a peroxisomal disorder.

Mandel H, Meiron D, Schutgens RB, Wanders RJ, Berant M.

J Pediatr Gastroenterol Nutr. 1992 Jan;14(1):83-5.

PMID:
1374125
18.

Glucose-galactose malabsorption. Report of a case with autoradiographic studies of a mucosal biopsy.

Schneider AJ, Kinter WB, Stirling CE.

N Engl J Med. 1966 Feb 10;274(6):305-12. No abstract available.

PMID:
5903212
19.

[Endoscopic jejunal biopsy in child chronic malabsorption (author's transl)].

Paterlini A, Salmi A, Solzi A, Negrini GP.

Pediatr Med Chir. 1981 Sep-Oct;3(5):407-9. Italian. No abstract available.

PMID:
7343935
20.

Histopathology of duodenal mucosa in malabsorption syndrome induced by cow's milk.

Kuitunen P, Visakorpi JK, Hallman N.

Ann Paediatr. 1965;205(1):54-63. No abstract available.

PMID:
5897671
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