Sitosterolemia
What's New
Last Posted: Mar 04, 2023
- Rare and Deleterious Mutations in ABCG5/ABCG8 Genes Contribute to Mimicking and Worsening of Familial Hypercholesterolemia Phenotype.
Tada Hayato, et al. Circulation journal : official journal of the Japanese Circulation Society 2019 0 (9) 1917-1924 - Heterozygous ABCG5 Gene Deficiency and Risk of Coronary Artery Disease.
Nomura Akihiro, et al. Circulation. Genomic and precision medicine 2020 0 (5) 417-423 - Recent Advances in the Critical Role of the Sterol Efflux Transporters ABCG5/G8 in Health and Disease.
Wang Helen H, et al. Advances in experimental medicine and biology 2020 0 105-136 - Features of Sitosterolemia in Children.
Xu Liyuan, et al. The American journal of cardiology 2020 0 (9) 1312-1316 - Serum sitosterol level predicting ABCG5 or ABCG8 genetic mutations.
Kojima Nobuko, et al. Clinica chimica acta; international journal of clinical chemistry 2020 0 11-16 - The Inherited Hypercholesterolemias.
Loh Wann Jia et al. Endocrinology and metabolism clinics of North America 2022 51(3) 511-537 - Clinical and genetic features of sitosterolemia in Japan.
Tada Hayato et al. Clinica chimica acta; international journal of clinical chemistry 2022 53039-44 - Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients.
Kaya Zühre, et al. Journal of clinical lipidology 2021 7 - High prevalence of increased sitosterol levels in hypercholesterolemic children suggest underestimation of sitosterolemia incidence.
Lee Joon Hee et al. PloS one 2020 15(8) e0238079 - Can genetic testing help in the management of dyslipidaemias?
Lazarte Julieta et al. Current opinion in lipidology 2020 Jun
More
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 25, 2024
- Content source: