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Sitosterolemia caused by compound heterozygosis of 2 allelic variants in the ABCG5 gene-21 years of follow-up.

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Title: Sitosterolemia caused by compound heterozygosis of 2 allelic variants in the ABCG5 gene-21 years of follow-up.
Authors: Coutinho JGV; Post-graduation Program in Health Science, Division of Endocrinology, Londrina State University, Londrina, Brazil (Drs Coutinho and Carrilho)., Costa ACS; Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular (LIM/25) do Hospital das Clínicas da Faculdade de Medicina da Universidade de Sao Paulo (HC-FMUSP), Brazil (Drs Costa, Quedas, and Jorge)., Issa MMM; Practitioner Physician - Sinop, Mato Grosso, Brazil (Dr Issa)., Paim NP; University of Mato Grosso Medical School, Sinop, Mato Grosso, Brazil (Dr Paim)., Quedas EPS; Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular (LIM/25) do Hospital das Clínicas da Faculdade de Medicina da Universidade de Sao Paulo (HC-FMUSP), Brazil (Drs Costa, Quedas, and Jorge)., Nunes VS; Laboratorio de Lipides (LIM-10), Hospital das Clinicas (HCFMUSP) da Faculdade de Medicina da Universidade de São Paulo, Sao Paulo, Brazil (Drs Nunes, Nakandakare)., Jorge AAL; Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular (LIM/25) do Hospital das Clínicas da Faculdade de Medicina da Universidade de Sao Paulo (HC-FMUSP), Brazil (Drs Costa, Quedas, and Jorge)., Nakandakare ER; Laboratorio de Lipides (LIM-10), Hospital das Clinicas (HCFMUSP) da Faculdade de Medicina da Universidade de São Paulo, Sao Paulo, Brazil (Drs Nunes, Nakandakare)., Carrilho AJF; Post-graduation Program in Health Science, Division of Endocrinology, Londrina State University, Londrina, Brazil (Drs Coutinho and Carrilho). Electronic address: acarrilho@uel.br.
Source: Journal of clinical lipidology [J Clin Lipidol] 2025 Jul-Aug; Vol. 19 (4), pp. 1139-1144. Date of Electronic Publication: 2025 Jun 15.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 101300157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1933-2874 (Print) Linking ISSN: 18764789 NLM ISO Abbreviation: J Clin Lipidol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Sitosterolemia caused by compound heterozygosis of 2 allelic variants in the ABCG5 gene-21 years of follow-up.
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  Data: <searchLink fieldCode="AU" term="%22Coutinho+JGV%22">Coutinho JGV</searchLink>; Post-graduation Program in Health Science, Division of Endocrinology, Londrina State University, Londrina, Brazil (Drs Coutinho and Carrilho).<br /><searchLink fieldCode="AU" term="%22Costa+ACS%22">Costa ACS</searchLink>; Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular (LIM/25) do Hospital das Clínicas da Faculdade de Medicina da Universidade de Sao Paulo (HC-FMUSP), Brazil (Drs Costa, Quedas, and Jorge).<br /><searchLink fieldCode="AU" term="%22Issa+MMM%22">Issa MMM</searchLink>; Practitioner Physician - Sinop, Mato Grosso, Brazil (Dr Issa).<br /><searchLink fieldCode="AU" term="%22Paim+NP%22">Paim NP</searchLink>; University of Mato Grosso Medical School, Sinop, Mato Grosso, Brazil (Dr Paim).<br /><searchLink fieldCode="AU" term="%22Quedas+EPS%22">Quedas EPS</searchLink>; Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular (LIM/25) do Hospital das Clínicas da Faculdade de Medicina da Universidade de Sao Paulo (HC-FMUSP), Brazil (Drs Costa, Quedas, and Jorge).<br /><searchLink fieldCode="AU" term="%22Nunes+VS%22">Nunes VS</searchLink>; Laboratorio de Lipides (LIM-10), Hospital das Clinicas (HCFMUSP) da Faculdade de Medicina da Universidade de São Paulo, Sao Paulo, Brazil (Drs Nunes, Nakandakare).<br /><searchLink fieldCode="AU" term="%22Jorge+AAL%22">Jorge AAL</searchLink>; Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular (LIM/25) do Hospital das Clínicas da Faculdade de Medicina da Universidade de Sao Paulo (HC-FMUSP), Brazil (Drs Costa, Quedas, and Jorge).<br /><searchLink fieldCode="AU" term="%22Nakandakare+ER%22">Nakandakare ER</searchLink>; Laboratorio de Lipides (LIM-10), Hospital das Clinicas (HCFMUSP) da Faculdade de Medicina da Universidade de São Paulo, Sao Paulo, Brazil (Drs Nunes, Nakandakare).<br /><searchLink fieldCode="AU" term="%22Carrilho+AJF%22">Carrilho AJF</searchLink>; Post-graduation Program in Health Science, Division of Endocrinology, Londrina State University, Londrina, Brazil (Drs Coutinho and Carrilho). Electronic address: acarrilho@uel.br.
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  Data: <searchLink fieldCode="JN" term="%22101300157%22">Journal of clinical lipidology</searchLink> [J Clin Lipidol] 2025 Jul-Aug; Vol. 19 (4), pp. 1139-1144. <i>Date of Electronic Publication: </i>2025 Jun 15.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101300157 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1933-2874 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2218764789%22">18764789 </searchLink><i>NLM ISO Abbreviation: </i>J Clin Lipidol <i>Subsets: </i>MEDLINE
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        Value: 10.1016/j.jacl.2025.06.007
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      – Code: eng
        Text: English
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              Text: 2025 Jul-Aug
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