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Last Updated: 10/31/2025

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Found 293 publications

Long-Standing Bilateral Adult-Onset Orbital Xanthogranuloma With Unique Histologic Findings Uncovering the Diagnosis of Sitosterolemia.

Long-Standing Bilateral Adult-Onset Orbital Xanthogranuloma With Unique Histologic Findings Uncovering the Diagnosis of Sitosterolemia.

Journal: The American Journal of dermatopathology
Published: October 01, 2025

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

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

Journal: The Journal of the Association of Physicians of India
Published: August 21, 2025

Chronic thrombocytopenia as a marker for early detection of sitosterolemia.

Chronic thrombocytopenia as a marker for early detection of sitosterolemia.

Journal: Journal of clinical lipidology
Published: July 17, 2025

Sitosterolemia Due to a New Combination of ABCG8 Variants Presenting as Hemolytic Anemia and Macrothrombocytopenia.

Sitosterolemia Due to a New Combination of ABCG8 Variants Presenting as Hemolytic Anemia and Macrothrombocytopenia.

Journal: JCEM case reports
Published: July 09, 2025

Sitosterolemia-Related Necrobiotic Xanthogranuloma: A Case Series Proposing a Potential Novel Subtype.

Sitosterolemia-Related Necrobiotic Xanthogranuloma: A Case Series Proposing a Potential Novel Subtype.

Journal: Journal of the American Academy of Dermatology
Published: July 07, 2025

Clinical features and genetic analysis of a Brazilian patient with sitosterolemia: a case report.

Clinical features and genetic analysis of a Brazilian patient with sitosterolemia: a case report.

Journal: Archives of endocrinology and metabolism
Published: June 18, 2025

Clinical characteristics and treatment outcomes of adult patients with phytosterolemia presenting with Thrombocytopenia

Clinical characteristics and treatment outcomes of adult patients with phytosterolemia presenting with Thrombocytopenia

Journal: Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
Published: May 12, 2025

Genome sequencing identifies uniparental isodisomy of chromosome 2p and a homozygous ABCG5 variant, enabling effective treatment of pediatric hypercholesterolemia after 13 years of therapeutic resistance: A case report.

Genome sequencing identifies uniparental isodisomy of chromosome 2p and a homozygous ABCG5 variant, enabling effective treatment of pediatric hypercholesterolemia after 13 years of therapeutic resistance: A case report.

Journal: Biomedical reports
Published: May 07, 2025

Sitosterolemia with Compound Heterozygous Variants in the ABCG5 Gene: A Rare Cause of Non-Immune Hemolysis and Macrothrombocytopenia

Sitosterolemia with Compound Heterozygous Variants in the ABCG5 Gene: A Rare Cause of Non-Immune Hemolysis and Macrothrombocytopenia

Journal: Turkish journal of haematology : official journal of Turkish Society of Haematology
Published: April 29, 2025

Isolated thrombocytopenia as an atypical presentation of sitosterolemia in a school-aged child.

Isolated thrombocytopenia as an atypical presentation of sitosterolemia in a school-aged child.

Journal: Journal of clinical lipidology
Published: April 14, 2025

From Bernard-Soulier syndrome to sitosterolemia: the role of genetic analysis in bleeding diathesis.

From Bernard-Soulier syndrome to sitosterolemia: the role of genetic analysis in bleeding diathesis.

Journal: Thrombosis journal
Published: March 19, 2025

Digenic Overlap Syndrome Masquerading as Homozygous Familial Hypercholesterolemia.

Digenic Overlap Syndrome Masquerading as Homozygous Familial Hypercholesterolemia.

Journal: JACC. Case reports
Published: March 13, 2025
Showing 1-12 of 293

Last Updated: 10/31/2025