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Literature DB >> 1013003

Abetalipoproteinaemia. A case report with pathological studies.

Abstract

The clinical and pathological features of a case of abetalipoproteinaemia in a 38-year-old patient are described in detail. A feature not previously recorded was a marked reduction in the velocity of ocular horizontal saccadic movements. Pathological studies revealed an active chronic demyelinating process. The patient showed no response to large doses of vitamin E. The rationale for this therapy, and the possible reasons for its failure are discussed.

Entities: Chemical Species

Mesh：

Substances：
Vitamin E

Year: 1976 PMID： 1013003 PMCID： PMC2496333 DOI： 10.1136/pgmj.52.613.713

Source DB: PubMed Journal: Postgrad Med J ISSN： 0032-5473 Impact factor: 2.401

12 in total

1. CONGENITAL BETA-LIPOPROTEIN DEFICIENCY: AN HEREDITARY DISORDER INVOLVING A DEFECT IN THE ABSORPTION AND TRANSPORT OF LIPIDS.

Authors: K J ISSELBACHER; R SCHEIG; G R PLOTKIN; J B CAULFIELD
Journal: Medicine (Baltimore) Date: 1964-05 Impact factor: 1.889

2. DEMYELINATING CENTRAL NERVOUS SYSTEM DISEASE, MACULAR ATROPHY AND ACANTHOCYTOSIS (BASSEN-KORNZWEIG SYNDROME).

Authors: L A SOBREVILLA; M L GOODMAN; C A KANE
Journal: Am J Med Date: 1964-11 Impact factor: 4.965

3. Malformation of the erythrocytes in a case of atypical retinitis pigmentosa.

Authors: F A BASSEN; A L KORNZWEIG
Journal: Blood Date: 1950-04 Impact factor: 22.113

Review 4. Abetalipoproteinemia.

Authors: H J Kayden
Journal: Annu Rev Med Date: 1972 Impact factor: 13.739

5. Acanthocytosis and neurological disease.

Authors: M J Aminoff
Journal: Brain Date: 1972 Impact factor: 13.501

6. The relationship between serum lipoproteins and red cell membranes in abetalipoproteinemia: deficiency of lecithin:cholesterol acyltransferase.

Authors: R A Cooper; C L Gulbrandsen
Journal: J Lab Clin Med Date: 1971-09

Abetalipoproteinaemia. A case report with pathological studies.

1. CONGENITAL BETA-LIPOPROTEIN DEFICIENCY: AN HEREDITARY DISORDER INVOLVING A DEFECT IN THE ABSORPTION AND TRANSPORT OF LIPIDS.

2. DEMYELINATING CENTRAL NERVOUS SYSTEM DISEASE, MACULAR ATROPHY AND ACANTHOCYTOSIS (BASSEN-KORNZWEIG SYNDROME).

3. Malformation of the erythrocytes in a case of atypical retinitis pigmentosa.

Review 4. Abetalipoproteinemia.

5. Acanthocytosis and neurological disease.

6. The relationship between serum lipoproteins and red cell membranes in abetalipoproteinemia: deficiency of lecithin:cholesterol acyltransferase.

7. Fat transport in abetalipoproteinemia. The effects of repeated infusions of beta-lipoprotein-rich plasma.

8. Hereditary neurological disease with acanthocytosis. A new syndrome.

Review 9. Cell membranes--composition: structure: function.

10. The cardiac lesions in Bassen-Kornzweig syndrome. Report of a case, with autopsy findings.

1. Hypobetalipoproteinaemia--a variant of the Bassen-Kornzweig syndrome.