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Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB splice site mutation

Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB... We report on acanthocytosis in a 31-year-old woman with homozygous familial hypobetalipoproteinemia due to a mutation affecting the splicing of the APOB gene encoding apolipoprotein B. Treatment with fat-soluble vitamins was associated with arrest of the usually progressive neurological complications of this condition. However, the acanthocytosis – literally ‘thorny’ erythrocytes that result from abnormal membrane fluidity – persists despite treatment. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Genetics Wiley

Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB splice site mutation

Clinical Genetics , Volume 61 (2) – Feb 1, 2002

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References (14)

Publisher
Wiley
Copyright
© Munksgaard 2001
ISSN
0009-9163
eISSN
1399-0004
DOI
10.1034/j.1399-0004.2002.610204.x
Publisher site
See Article on Publisher Site

Abstract

We report on acanthocytosis in a 31-year-old woman with homozygous familial hypobetalipoproteinemia due to a mutation affecting the splicing of the APOB gene encoding apolipoprotein B. Treatment with fat-soluble vitamins was associated with arrest of the usually progressive neurological complications of this condition. However, the acanthocytosis – literally ‘thorny’ erythrocytes that result from abnormal membrane fluidity – persists despite treatment.

Journal

Clinical GeneticsWiley

Published: Feb 1, 2002

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