Sitosterolemia Latest Advances

Find the Latest Research About Sitosterolemia

Last Updated: 06/30/2026

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Found 320 publications

Subcutaneous nodules on the elbows of a teenager.

Subcutaneous nodules on the elbows of a teenager.

Journal: JAAD case reports
Published: June 22, 2026

Familial Hypercholesterolemia Combined With Sitosterolemia.

Familial Hypercholesterolemia Combined With Sitosterolemia.

Journal: JACC. Case reports
Published: March 27, 2026

Haematological presentation of sitosterolaemia.

Haematological presentation of sitosterolaemia.

Journal: BMJ case reports
Published: March 25, 2026

Genetic dyslipidemias.

Genetic dyslipidemias.

Journal: Annales d'endocrinologie
Published: March 22, 2026

Compound Heterozygous ABCG5 Mutations Confirm Sitosterolemia in a Patient Initially Reported as Necrobiotic Xanthogranuloma: A Final Diagnosis.

Compound Heterozygous ABCG5 Mutations Confirm Sitosterolemia in a Patient Initially Reported as Necrobiotic Xanthogranuloma: A Final Diagnosis.

Journal: The Journal of dermatology
Published: March 01, 2026

A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.

A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.

Journal: Journal of atherosclerosis and thrombosis
Published: February 11, 2026

Novel ABCG5 and ABCG8 Variants in Sitosterolemia: Insights Into Haemolysis, Calcium Dysregulation and Therapeutic Challenges.

Novel ABCG5 and ABCG8 Variants in Sitosterolemia: Insights Into Haemolysis, Calcium Dysregulation and Therapeutic Challenges.

Journal: Human mutation
Published: February 01, 2026

Population enrichment of ABCG5/ABCG8 variants in Qatar and genetic estimates of sitosterolemia burden.

Population enrichment of ABCG5/ABCG8 variants in Qatar and genetic estimates of sitosterolemia burden.

Journal: Journal of clinical lipidology
Published: January 27, 2026

Phytosterolemia-associated histiocytosis as a diagnostic challenge.

Phytosterolemia-associated histiocytosis as a diagnostic challenge.

Journal: Journal of clinical lipidology
Published: January 07, 2026

Case report: The first report of a family with sitosterolemia in the Polish population.

Case report: The first report of a family with sitosterolemia in the Polish population.

Journal: Journal of clinical lipidology
Published: December 15, 2025

Comment on: "Sitosterolemia: Case Series of a Rare Genetic Disorder from India".

Comment on: "Sitosterolemia: Case Series of a Rare Genetic Disorder from India".

Journal: The Journal of the Association of Physicians of India
Published: December 14, 2025

ABCG5-related dysregulation of phytosterol metabolism and growth impairment: a family-based observational study.

ABCG5-related dysregulation of phytosterol metabolism and growth impairment: a family-based observational study.

Journal: Scientific reports
Published: December 04, 2025
Showing 1-12 of 320

Last Updated: 06/30/2026