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Sitosterolemia, is a disorder of increased plant sterol levels leading to a variable presentation and haematological manifestations. Although considered rare, the prevalence is likely underestimated due to the variable phenotype… Click to show full abstract
Sitosterolemia, is a disorder of increased plant sterol levels leading to a variable presentation and haematological manifestations. Although considered rare, the prevalence is likely underestimated due to the variable phenotype and challenges in diagnosis. The delayed diagnosis may lead to cardiovascular complications. We reviewed the presentation and management of patients with sitosterolemia in our clinic.
Keywords:
disorder case;
heterogeneous lipid;
disorder;
sitosterolemia underdiagnosed;
lipid disorder;
underdiagnosed heterogeneous
Journal Title: Journal of Paediatrics and Child Health
Year Published: 2025
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Journal Title: Journal of Paediatrics and Child Health
Year Published: 2025
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!