PMID: 428829Feb 1, 1979Paper

Hypobetalipoproteinaemia--a variant of the Bassen-Kornzweig syndrome

Gut
B B ScottM S Losowsky

Abstract

A patient is reported with hypobetalipoproteinaemia and clinical features resembling the Bassen-Kornzweig syndrome (abetalipoproteinaemia) more completely than previously described. This supports a link between hypobetalipoproteinaemia and abetalipoproteinaemia and it is suggested that the Bassen-Kornzweig syndrome has a wide spectrum with serum betalipoprotein ranging from absent to normal. It is likely that there are different genetic entities with similar end results.

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Citations

Mar 14, 2009·Clinical Dysmorphology·Benjamin D SolomonCynthia J Tifft
Aug 3, 2012·Case Reports in Gastroenterology·Mindy C W LamUrs P Steinbrecher
Oct 6, 2010·Orphanet Journal of Rare Diseases·Noel PerettiUNKNOWN Department of Pediatrics, CHU Sainte-Justine Research Center, Université de Montréal
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Jan 1, 1989·Metabolism: Clinical and Experimental·Y HaranoA Tamura

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