Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts.
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| Title: | Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts. |
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| Authors: | Fernández-Eulate, Gorka1,2 (AUTHOR), Martin, Gilles C.3 (AUTHOR), Dureau, Pascal3 (AUTHOR), Speeg-Spatz, Claude4 (AUTHOR), Brassier, Anais5 (AUTHOR), Gillard, Perrine3 (AUTHOR), Bremond-Gignac, Dominique6 (AUTHOR), Thouvenin, Dominique7 (AUTHOR), Pagan, Cecile8 (AUTHOR), Lamari, Foudil9 (AUTHOR), Nadjar, Yann1 (AUTHOR) yann.nadjar@aphp.fr |
| Source: | Orphanet Journal of Rare Diseases. 12/13/2022, Vol. 17 Issue 1, p1-6. 6p. |
| Database: | Academic Search Ultimate |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 160763876 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Fernández-Eulate%2C+Gorka%22">Fernández-Eulate, Gorka</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Martin%2C+Gilles+C%2E%22">Martin, Gilles C.</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Dureau%2C+Pascal%22">Dureau, Pascal</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Speeg-Spatz%2C+Claude%22">Speeg-Spatz, Claude</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Brassier%2C+Anais%22">Brassier, Anais</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gillard%2C+Perrine%22">Gillard, Perrine</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bremond-Gignac%2C+Dominique%22">Bremond-Gignac, Dominique</searchLink><relatesTo>6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Thouvenin%2C+Dominique%22">Thouvenin, Dominique</searchLink><relatesTo>7</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Pagan%2C+Cecile%22">Pagan, Cecile</searchLink><relatesTo>8</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lamari%2C+Foudil%22">Lamari, Foudil</searchLink><relatesTo>9</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Nadjar%2C+Yann%22">Nadjar, Yann</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> yann.nadjar@aphp.fr</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Orphanet+Journal+of+Rare+Diseases%22">Orphanet Journal of Rare Diseases</searchLink>. 12/13/2022, Vol. 17 Issue 1, p1-6. 6p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=160763876 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13023-022-02591-4 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 6 StartPage: 1 Titles: – TitleFull: Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Fernández-Eulate, Gorka – PersonEntity: Name: NameFull: Martin, Gilles C. – PersonEntity: Name: NameFull: Dureau, Pascal – PersonEntity: Name: NameFull: Speeg-Spatz, Claude – PersonEntity: Name: NameFull: Brassier, Anais – PersonEntity: Name: NameFull: Gillard, Perrine – PersonEntity: Name: NameFull: Bremond-Gignac, Dominique – PersonEntity: Name: NameFull: Thouvenin, Dominique – PersonEntity: Name: NameFull: Pagan, Cecile – PersonEntity: Name: NameFull: Lamari, Foudil – PersonEntity: Name: NameFull: Nadjar, Yann IsPartOfRelationships: – BibEntity: Dates: – D: 13 M: 12 Text: 12/13/2022 Type: published Y: 2022 Identifiers: – Type: issn-print Value: 17501172 Numbering: – Type: volume Value: 17 – Type: issue Value: 1 Titles: – TitleFull: Orphanet Journal of Rare Diseases Type: main |
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