Article
Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers.
Orphanet journal of rare diseases - 29 Sept 2010
Peretti Noel, Sassolas Agnès, Roy Claude C, Deslandres Colette, Charcosset Mathilde, Castagnetti Justine, Pugnet-Chardon Laurence, Moulin Philippe, Labarge Sylvie, Bouthillier Lise, Lachaux Alain, Levy Emile
Abstract excerpt
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 gene implicated in CRD was identified. The diagnosis is often delayed because symptoms are nonspecific. Treatment and follow-up remain...
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