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Tangier disease in a Turkish family
Neriman Sahiner1, Mukadder Kocak, Fulya Demirceken
1Department of Dermatology, Kırıkkale University Faculty of Medicine, Kirikkale, Turkey.
Summary
Tangier disease (TD), a rare lipid metabolism disorder, can affect the upper gastrointestinal tract. This report details findings in two pediatric patients with TD, highlighting characteristic fatty deposits.
Area of Science:
- Genetics
- Metabolic Disorders
- Gastroenterology
Background:
- Tangier disease (TD) is a rare genetic disorder of lipid metabolism.
- It is characterized by the accumulation of cholesteryl esters in tissues.
- Gastrointestinal involvement is suspected but less commonly documented.
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