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Sitosterolemia: a new ABCG5 mutation.
Ital J Dermatol Venerol
January 2025
Skin + More MVZ GmbH, Biberach an der Riss, Germany.
Phenotypes, Genotypes, Treatment, and Outcomes of 14 Children with Sitosterolemia at Vietnam National Children's Hospital.
J Clin Med
January 2025
Hanoi Medical University, 1st Ton That Tung Street, Hanoi 11521, Vietnam.
: Sitosterolemia is a rare autosomal recessive disorder characterized by diverse clinical manifestations ranging from asymptomatic cases to the development of xanthomas, hypercholesterolemia, premature atherosclerosis, or even sudden death during childhood. It results from homozygous or compound heterozygous pathogenic variants in the or genes. Prompt detection and intervention are essential to managing this condition and preventing severe outcomes.
View Article and Find Full Text PDFIdentification of a homozygous variant in ABCG5 by panel sequencing in a Pakistani family with sitosterolemia: Genotype-phenotype correlation and management considerations.
J Clin Lipidol
October 2024
Department of Biological Sciences, National University of Medical Sciences, Rawalpindi 46000, Pakistan. Electronic address:
Sitosterolemia is a rare autosomal recessive disorder characterized by impaired excretion of plant sterols, leading to their accumulation in tissues and organs. We identified a hitherto unreported homozygous variant, in ATP-binding cassette sub-family G member 5 (ABCG5) (NM_022436.3) c.
View Article and Find Full Text PDFCompound heterozygous variants in the ABCG5 gene in a Korean boy with sitosterolemia.
Ann Pediatr Endocrinol Metab
October 2024
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Evaluation of plasma phytosterols in sitosterolemia, their kindreds and hyperlipidemia subjects.
J Clin Lipidol
September 2024
Division of Cardiology, Department of Internal Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China; Hubei Key Laboratory of Genetics and Molecular Mechanisms of Cardiological Disorders, Wuhan, 430000, China. Electronic address:
Background: Patients suffering from sitosterolemia with ABCG5/8 mutation typically present with early-onset or rapidly progressive atherosclerosis. Their kindreds with partial genetic deficiencies of ABCG5/8 are often considered healthy. However, discerning sitosterolemia from its familial kindreds and hyperlipidemia subjects has remained challenging.
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