Case Reports
doi: 10.1136/gut.20.2.163.
Hypobetalipoproteinaemia--a variant of the Bassen-Kornzweig syndrome
- PMID: 428829
- PMCID: PMC1419446
- DOI: 10.1136/gut.20.2.163
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Case Reports
Hypobetalipoproteinaemia--a variant of the Bassen-Kornzweig syndrome
Gut.
1979 Feb.
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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