Chylomicron Retention Disease

Common Name(s)

Chylomicron Retention Disease, Chylomicron Retention Disease (CMRD)

Chylomicron retention disease is an autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy ({5:Dannoura et al., 1999}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chylomicron Retention Disease" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Chylomicron Retention Disease" returned 4 free, full-text research articles on human participants. First 3 results:

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

Author(s): Khadija Ouguerram, Yassine Zaïr, Fatima Kasbi-Chadli, Hassane Nazih, Dominique Bligny, Jacques Schmitz, Thomas Aparicio, Maud Chétiveaux, Thierry Magot, Laurence P Aggerbeck, Marie Elisabeth Samson-Bouma, Michel Krempf

Journal: Arterioscler. Thromb. Vasc. Biol.. 2012 Jun;32(6):1520-5.

 

Anderson disease is a rare inherited lipid malabsorption syndrome associated with hypocholesterolemia and linked to SAR1B mutations. The aim of this article was to analyze the mechanisms responsible for the low plasma apolipoprotein Apo-B100 and Apo-AI in 2 patients with Anderson disease.

Last Updated: 17 May 2012

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

Author(s): Tomoo Okada, Michio Miyashita, Junji Fukuhara, Masahiko Sugitani, Takahiro Ueno, Marie-Elisabeth Samson-Bouma, Lawrence P Aggerbeck

Journal:

 

Anderson's Disease (AD)/Chylomicron Retention Disease (CMRD) is a rare hereditary hypocholesterolemic disorder characterized by a malabsorption syndrome with steatorrhea, failure to thrive and the absence of chylomicrons and apolipoprotein B48 post-prandially. All patients studied ...

Last Updated: 23 Feb 2012

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

Author(s): Amandine Georges, Jessica Bonneau, Dominique Bonnefont-Rousselot, Jacqueline Champigneulle, Jean P Rabès, Marianne Abifadel, Thomas Aparicio, Jean C Guenedet, Eric Bruckert, Catherine Boileau, Alain Morali, Mathilde Varret, Lawrence P Aggerbeck, Marie E Samson-Bouma

Journal:

 

Anderson's disease (AD) or chylomicron retention disease (CMRD) is a very rare hereditary lipid malabsorption syndrome. In order to discover novel mutations in the SAR1B gene and to evaluate the expression, as compared to healthy subjects, of the Sar1 gene and protein paralogues in ...

Last Updated: 28 Jan 2011

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Chylomicron Retention Disease" returned 1 free, full-text review articles on human participants. First 3 results:

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

Author(s): Noel Peretti, Agnès Sassolas, Claude C Roy, Colette Deslandres, Mathilde Charcosset, Justine Castagnetti, Laurence Pugnet-Chardon, Philippe Moulin, Sylvie Labarge, Lise Bouthillier, Alain Lachaux, Emile Levy, ,

Journal:

 

Familial hypocholesterolemia, namely abetalipoproteinemia, hypobetalipoproteinemia and chylomicron retention disease (CRD), are rare genetic diseases that cause malnutrition, failure to thrive, growth failure and vitamin E deficiency, as well as other complications. Recently, the ...

Last Updated: 19 Oct 2010

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 21 May 2014

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