Clinical features and genetic analysis of a Brazilian patient with sitosterolemia: a case report
ABSTRACT Sitosterolemia is a rare genetic lipid disorder caused by mutations in the ABCG5/ABCG8, genes. It is characterized by plasmatic plant sterols accumulation, formation of tendon and tuberous xanthomas and early onset coronary artery disease. The differential diagnosis with other congenital dy...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Brazilian Society of Endocrinology and Metabolism
2025-06-01
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| Series: | Archives of Endocrinology and Metabolism |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972025000300900&lng=en&tlng=en |
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