BASSEN KORNZWEIG DISEASES
\bˈasən kˈɔːnzwe͡ɪɡ dɪzˈiːzɪz], \bˈasən kˈɔːnzweɪɡ dɪzˈiːzɪz], \b_ˈa_s_ə_n k_ˈɔː_n_z_w_eɪ_ɡ d_ɪ_z_ˈiː_z_ɪ_z]\
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A disorder of lipid metabolism inherited as an autosomal recessive trait characterized by the near absence of APOLIPOPROTEINS B and apoB-containing lipoproteins in plasma. Microsomal triglyceride transfer protein is deficient or absent in enterocytes. Clinical and laboratory findings include acanthocytosis, hypocholesterolemia, peripheral neuropathy, posterior column degeneration, ataxia, and steatorrhea. Intellectual abilities may also be impaired. (Menkes, Textbook of Child Neurology, 5th ed, p118; Curr Opin Lipidol 1994 Apr;5 (2):81-6)
By DataStellar Co., Ltd
Nearby Words
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