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Articles by Ariel Brautbar
Total Records ( 1 ) for Ariel Brautbar
  Smita I. Negi , Ariel Brautbar , Salim S. Virani , Aashish Anand , Eliana Polisecki , Bela F. Asztalos , Christie M. Ballantyne , Ernst J. Schaefer and Peter H. Jones
  Tangier disease is a rare autosomal-recessive disorder caused by mutation in the ATP binding cassette transporter 1 (ABCA1) gene. Typically, Tangier disease manifests with symptoms and signs resulting from the deposition of cholesteryl esters in nonadipose tissues; chiefly, in peripheral nerves leading to neuropathy and in reticulo-endothelial organs, such as liver, spleen, lymph nodes, and tonsils, causing their enlargement and discoloration. An association with early cardiovascular disease can be variable. We describe a patient with a unique phenotype of Tangier disease from a novel splice site mutation in the ABCA1 gene that is associated with a central nervous system presentation resembling multiple sclerosis, and the presence of premature atherosclerosis.
 
 
 
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