Sitosterolemia with double variant in ABCG8 gene: a case report.
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| Title: | Sitosterolemia with double variant in ABCG8 gene: a case report. |
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| Authors: | Gómez, Sara Isabel Noreña1,2 (AUTHOR), Salazar-Solarte, Aura María1 (AUTHOR) auram.salazars@udea.edu.co, del Pilar Pereira Gómez, María3 (AUTHOR), Rojas, Susana Gómez3 (AUTHOR), Velásquez, Juan Manuel Alfaro1,3,4 (AUTHOR) juan.alfaro@udea.edu.co |
| Source: | Journal of Rare Diseases. 6/2/2026, Vol. 5 Issue 1, p1-5. 5p. |
| Database: | Academic Search Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 194225478 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Sitosterolemia with double variant in ABCG8 gene: a case report. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Gómez%2C+Sara+Isabel+Noreña%22">Gómez, Sara Isabel Noreña</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Salazar-Solarte%2C+Aura+María%22">Salazar-Solarte, Aura María</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> auram.salazars@udea.edu.co</i><br /><searchLink fieldCode="AR" term="%22del+Pilar+Pereira+Gómez%2C+María%22">del Pilar Pereira Gómez, María</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Rojas%2C+Susana+Gómez%22">Rojas, Susana Gómez</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Velásquez%2C+Juan+Manuel+Alfaro%22">Velásquez, Juan Manuel Alfaro</searchLink><relatesTo>1,3,4</relatesTo> (AUTHOR)<i> juan.alfaro@udea.edu.co</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Journal+of+Rare+Diseases%22">Journal of Rare Diseases</searchLink>. 6/2/2026, Vol. 5 Issue 1, p1-5. 5p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=194225478 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s44162-026-00205-2 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 5 StartPage: 1 Titles: – TitleFull: Sitosterolemia with double variant in ABCG8 gene: a case report. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Gómez, Sara Isabel Noreña – PersonEntity: Name: NameFull: Salazar-Solarte, Aura María – PersonEntity: Name: NameFull: del Pilar Pereira Gómez, María – PersonEntity: Name: NameFull: Rojas, Susana Gómez – PersonEntity: Name: NameFull: Velásquez, Juan Manuel Alfaro IsPartOfRelationships: – BibEntity: Dates: – D: 02 M: 06 Text: 6/2/2026 Type: published Y: 2026 Identifiers: – Type: issn-print Value: 2731085X Numbering: – Type: volume Value: 5 – Type: issue Value: 1 Titles: – TitleFull: Journal of Rare Diseases Type: main |
| ResultId | 1 |