Aug 1, 2015 · Bassen-Kornzweig syndrome is caused by a defect in a gene that tells the body to create lipoproteins (molecules of fat combined with protein ) ...

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Oct 25, 2018 · The disorder affects males and females equally. Nomenclature. Abetalipoproteinemia was initially named Bassen-Kornzweig syndrome. Prevalence.

Abetalipoproteinemia was first reported in the medical literature by doctors Bassen and Kornzweig in 1950 and is also known as Bassen-Kornzweig syndrome. The ...

Abetalipoproteinemia (also known as: Bassen–Kornzweig syndrome, microsomal triglyceride transfer protein deficiency disease, MTP deficiency, and ...

In this condition, RP is accompanied by progressive neurological problems, abnormal red blood cells (acanthocytosis) and defective bowel absorption of fat.

A neuromuscular disorder resembling Friedreich's ataxia, associated with steatorrhea, acanthocytosis, retinitis pigmentosa, and a disorder of lipid metabolism.

The major ocular manifestations of abetalipoproteinemia are in the retina which develops diffuse and sometimes patchy pigmentary changes often called ...

Bassen-Kornzweig syndrome or abetalipoproteinemia is a rare autosomal recessive disorder characterized by a malabsorption of dietary fat and fat-soluble ...