Article

Osteoarticular changes in Refsum’s disease: a case report

2023-05-17

Abstract excerpt

<h4>Background: </h4> Refsum’s Disease (RD) is a rare and complex disease of lipid metabolism with the domination of neurological symptoms and impacting the metabolism of phytanic acid. The metabolic block, inherited in an autosomal recessive manner, affects the growth and functioning of the myelin sheath around nerve cells. Approximately 35% of RD patients have changes in their osteoarticular system. The most com...

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Literature Corpus work: 056a084e-3949-5f42-bad8-49e4982864e2
DOI: 10.21203/rs.3.rs-2802241/v1

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