Serum sitosterol level predicting ABCG5 or ABCG8 genetic mutations.

doi:10.1016/j.cca.2020.04.003

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Article

Serum sitosterol level predicting ABCG5 or ABCG8 genetic mutations.

Clinica chimica acta; international journal of clinical chemistry - 1 Aug 2020

Kojima Nobuko, Tada Hayato, Usui Soichiro, Sakata Kenji, Hayashi Kenshi, Nohara Atsushi, Inazu Akihiro, Takamura Masayuki, Kawashiri Masa-Aki

Abstract excerpt

BACKGROUND: Currently, serum concentrations of sitosterol above 10 μg/ml are considered to be one of the major diagnostic criteria of sitosterolemia. METHODS: We retrospectively investigated consecutive 206 Japanese dyslipidemic subjects (mean age = 46 yr, male n = 94) with the assessments of serum sitosterol level and the presence of ABCG5 or ABCG8 genetic mutations in our institute since 2009-2018. We divided...

Topics

ATP Binding Cassette Transporter, Subfamily G, Member 5
ATP Binding Cassette Transporter, Subfamily G, Member 8
Adult
Female
Humans
Male
Middle Aged
Mutation
Predictive Value of Tests
Retrospective Studies
Sitosterols

Source

Open in PubMed

Identifiers

PMID: 32275988
DOI: 10.1016/j.cca.2020.04.003

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