Zobrazeno 1 - 10
of 346
pro vyhledávání: '"Autosomal recessive hypercholesterolemia"'
Autor:
Roopa Mehta, Rafael Zubirán, Alexandro J. Martagón, Alejandra Vazquez-Cárdenas, Yayoi Segura-Kato, María Teresa Tusié-Luna, Carlos A. Aguilar-Salinas
Publikováno v:
Journal of Lipid Research, Vol 57, Iss 12, Pp 2115-2129 (2016)
The burden caused by familial hypercholesterolemia (FH) varies among countries and ethnic groups. The prevalence and characteristics of FH in Latin American (LA) countries is largely unknown. We present a systematic review (following the PRISMA state
Externí odkaz:
https://doaj.org/article/94946dff2fd1420a83ce72caed6aae7f
Publikováno v:
Journal of Lipid Research, Vol 57, Iss 5, Pp 809-817 (2016)
High serum cholesterol (hypercholesterolemia) strongly associates with cardiovascular diseases as the atherogenic LDLs promote atheroma development in arteries (atherosclerosis). LDL clearance from the circulation by LDL receptor (LDLR)-mediated endo
Externí odkaz:
https://doaj.org/article/4fc78c7e79af4914a10d37680a524b06
Akademický článek
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Publikováno v:
Current Opinion in Lipidology. 31:56-61
PURPOSE OF REVIEW This review summarizes the current knowledge regarding autosomal recessive hypercholesterolemia (ARH) and provides new insight into the natural history and therapeutic management of this lipid disorder. RECENT FINDINGS Novel homozyg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a558b92b7cd57eae6a4bef3278da76eb
https://doi.org/10.1097/mol.0000000000000664
https://doi.org/10.1097/mol.0000000000000664
Autor:
Nejat Mahdieh, Ata Firouzi, Parisa Nikasa, Hossein Baharvand, Mehdi Totonchi, Mohammad Saeid Hejazi, Bahareh Rabbani
Publikováno v:
Clinical Pediatric Endocrinology. 30:201-204
Familial hypercholesterolemia (FH, OMIM number #143890), a life-threatening monogenic disorder characterized by high levels of low-density lipoprotein cholesterol (LDL-C), is classified into dominant and recessive types (1). The dominant form of FH m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ea127df1cd0c3a3cd53f9c7522e7b816
https://doi.org/10.1297/cpe.30.201
https://doi.org/10.1297/cpe.30.201
Publikováno v:
Journal of Lipid Research, Vol 54, Iss 6, Pp 1550-1559 (2013)
The LDL receptor (LDLR) relies upon endocytic adaptor proteins for internalization of lipoproteins. The results of this study show that the LDLR adaptor autosomal recessive hypercholesterolemia protein (ARH) requires nitric oxide to support LDL uptak
Externí odkaz:
https://doaj.org/article/fc737ae6851c4ae7b084ad5bb8317d17
Autor:
Berit Storgaard Hedegaard, Ib Christian Klausen, Anne Tybjærg-Hansen, Morten Hostrup Martinsen
Publikováno v:
Journal of Clinical Lipidology. 14:419-424
Autosomal recessive hypercholesterolemia is a rare genetic disorder due to homozygosity or compound heterozygosity for mutations in the low-density lipoprotein receptor adapter protein 1 gene (LDLRAP1), resulting in elevated low-density lipoprotein c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d544310969f46bf3e1278800ebbd943c
https://doi.org/10.1016/j.jacl.2020.06.002
https://doi.org/10.1016/j.jacl.2020.06.002
Publikováno v:
Expert Opinion on Orphan Drugs. 8:197-208
Homozygous familial hypercholesterolemia (hoFH), a genetic disorder characterized by markedly impaired hepatic clearance of LDL and LDL cholesterol concentration exceeding 12 mmol/L, causes coronar...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6160f9ff87f6b26ec5f404e1fcf2b265
https://doi.org/10.1080/21678707.2020.1784721
https://doi.org/10.1080/21678707.2020.1784721
Autor:
Dirk J. Blom, César Martín, Kévin Chemello, Gilles Lambert, Antonio Gallo, Javier García-Nafría
Publikováno v:
Addi. Archivo Digital para la Docencia y la Investigación
instname
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Journal of Lipid Research
Journal of Lipid Research, 2021, pp.100062. ⟨10.1016/j.jlr.2021.100062⟩
Journal of Lipid Research, Vol 62, Iss, Pp 100062-(2021)
Journal of Lipid Research, American Society for Biochemistry and Molecular Biology, 2021, pp.100062. ⟨10.1016/j.jlr.2021.100062⟩
Addi: Archivo Digital para la Docencia y la Investigación
Universidad del País Vasco
instname
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Journal of Lipid Research
Journal of Lipid Research, 2021, pp.100062. ⟨10.1016/j.jlr.2021.100062⟩
Journal of Lipid Research, Vol 62, Iss, Pp 100062-(2021)
Journal of Lipid Research, American Society for Biochemistry and Molecular Biology, 2021, pp.100062. ⟨10.1016/j.jlr.2021.100062⟩
Addi: Archivo Digital para la Docencia y la Investigación
Universidad del País Vasco
Familial hypercholesterolemia (FH) is one of the most common genetic disorders in humans. It is an extremely atherogenic metabolic disorder characterized by lifelong elevations of circulating LDL-C levels often leading to premature cardiovascular eve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44447337b377c6d9f787e9f7ad596c58
http://hdl.handle.net/10810/51139
http://hdl.handle.net/10810/51139
Publikováno v:
Journal of Clinical Lipidology. 13:405-410
We report a new variant in the LDLRAP1 gene associated with autosomal recessive hypercholesterolemia in a woman of central European ancestry.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a043adcb57dd357d4a480427a0084679
https://doi.org/10.1016/j.jacl.2019.02.003
https://doi.org/10.1016/j.jacl.2019.02.003