Results 141 to 150 of about 1,320 (173)
Family hypercholesterolemia due to <i>LDLR</i> gene in Vietnamese children: characteristics of phenotype and genotype. [PDF]
Mol Genet Metab RepDo MTT +5 more
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Homozygous phytosterolemia and a literature review: A case report.
World J Clin CasesJiang CX, Yang G, Shi LP, Su PY.
europepmc +1 more source
Reply: Lipid Management in the Post-Statin Era: FDA Indications for Bempedoic Acid. [PDF]
JACC AdvSpitz JA.
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A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia
Takeshi Okada +10 more
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2022
Sitosterolemia is an inherited metabolic disorder characterized by increased levels of plant sterols, such as sitosterol. This disease is caused by loss-of-function genetic mutations in the ATP-binding cassette (ABC) subfamily G member 5 or member 8 (ABCG5 or ABCG8, respectively), both of which play important roles in the selective excretion of plant ...
Hayato, Tada +3 more
openaire +3 more sources
Sitosterolemia is an inherited metabolic disorder characterized by increased levels of plant sterols, such as sitosterol. This disease is caused by loss-of-function genetic mutations in the ATP-binding cassette (ABC) subfamily G member 5 or member 8 (ABCG5 or ABCG8, respectively), both of which play important roles in the selective excretion of plant ...
Hayato, Tada +3 more
openaire +3 more sources
Cardiovascular Drug Reviews, 2002
ABSTRACTSitosterolemia was first described 28 years ago in two sisters. They had tendon xanthomas, normal plasma cholesterol levels, and elevated plant sterol levels. The high plant sterol levels were shown to be due to the increased absorption and delayed removal of plant sterols from the body. The increased absorption of plant sterols does not affect
Gerald, Salen +2 more
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ABSTRACTSitosterolemia was first described 28 years ago in two sisters. They had tendon xanthomas, normal plasma cholesterol levels, and elevated plant sterol levels. The high plant sterol levels were shown to be due to the increased absorption and delayed removal of plant sterols from the body. The increased absorption of plant sterols does not affect
Gerald, Salen +2 more
openaire +2 more sources
SITOSTEROLEMIA (FITOSTEROLEMIA)
Revista da Sociedade de Cardiologia do Estado de São Paulo, 2021A sitosterolemia foi descrita como uma doença recessiva rara, associada com aterosclerose prematura e grave. A sitosterolemia é causada pelo aumento da absorção intestinal e diminuição da excreção biliar de esteróis resultantes de mutações bialélicas em ABCG5 ou ABCG8, que codificam o transportador de efluxo de esterol ABCG5 e ABCG8, resultando em ...
Celma Muniz Martins +2 more
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