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D. Rader, H. Brewer (1993)
Abetalipoproteinemia: New Insights Into Lipoprotein Assembly and Vitamin E Metabolism From a Rare Genetic DiseaseJAMA, 270
S. Young, S. Northey, B. Mccarthy (1988)
Low plasma cholesterol levels caused by a short deletion in the apolipoprotein B gene.Science, 241 4865
A. Doolittle (1925)
WATERPROOFING LABELS FOR WET SPECIMENS.Science, 61 1588
Muller (1985)
The role of vitamin E in the treatment of the neurological features of abetalipoproteinaemia and other disorders of fat absorptionJ Inherit Metab Dis, 61
D. Sharp, L. Blinderman, K. Combs, B. Kienzle, B. Ricci, K. Wager-Smith, C. Gil, C. Turck, Marie-Elizabeth Boumas, D. Rader, L. Aggerbeck, R. Gregg, D. Gordon, J. Wetterau (1993)
Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemiaNature, 365
Kayden Hj, R. Silber, Kossmann Ce (1965)
The role of vitamin E deficiency in the abnormal autohemolysis of acanthocytosis.Transactions of the Association of American Physicians, 78
Narcisi Tm, C. Shoulders, Chester Sa, J. Read, Brett Dj, Harrison Gb, Grant Tt, Fox Mf, S. Povey, de Tw (1995)
Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia.American journal of human genetics, 57 6
H. Salt, O. Wolff, JuneK. Lloyd, AudreyS. Fosbrooke, A. Cameron, Douglas Hubble (1960)
On having no beta-lipoprotein. A syndrome comprising a-beta-lipoproteinaemia, acanthocytosis, and steatorrhoea.Lancet, 2 7146
V. Stevenson, R. Hardie (2001)
Acanthocytosis and neurological disordersJournal of Neurology, 248
Biemer Jj, McCammon Re (1975)
The genetic relationship of abetalipoproteinemia and hypobetalipoproteinemia: a report of the occurence of both diseases within the same family.Journal of Laboratory and Clinical Medicine, 85
J. Wetterau, L. Aggerbeck, M. Bouma, C. Eisenberg, A. Munck, M. Hermier, J. Schmitz, G. Gay, D. Rader, R. Gregg (1992)
Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia.Science, 258 5084
F. Bassen, A. Kornzweig (1950)
Malformation of the erythrocytes in a case of atypical retinitis pigmentosa.Blood, 5 4
Jian Wang, R. Hegele (2000)
Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemiaHuman Mutation, 15
Don Carpenter (1985)
AbetalipoproteinemiaSeminars in Neurology, 5
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.
Clinical Genetics – Wiley
Published: Feb 1, 2002
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