Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis.
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| Title: | Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis. |
|---|---|
| Authors: | Bertamino, Marta1 (AUTHOR), Goldberg, David J.2 (AUTHOR), Mughal, M. Zulf3 (AUTHOR), Pabst, Lisa4 (AUTHOR), Liao, Yaping Joyce5,6 (AUTHOR), Sun, Lisa R.7 (AUTHOR), Beckwell, Jane8 (AUTHOR), Kozaric, Amina8 (AUTHOR), du Moulin, Ruth9 (AUTHOR), Swanner, Katie9 (AUTHOR), Ferreira, Carlos R.10 (AUTHOR), Ziegler, Shira G.11 (AUTHOR) sgziegler@jhmi.edu |
| Source: | Orphanet Journal of Rare Diseases. 11/19/2025, Vol. 20 Issue 1, p1-12. 12p. |
| 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: 189416127 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=189416127 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13023-025-04102-7 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 12 StartPage: 1 Titles: – TitleFull: Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Bertamino, Marta – PersonEntity: Name: NameFull: Goldberg, David J. – PersonEntity: Name: NameFull: Mughal, M. Zulf – PersonEntity: Name: NameFull: Pabst, Lisa – PersonEntity: Name: NameFull: Liao, Yaping Joyce – PersonEntity: Name: NameFull: Sun, Lisa R. – PersonEntity: Name: NameFull: Beckwell, Jane – PersonEntity: Name: NameFull: Kozaric, Amina – PersonEntity: Name: NameFull: du Moulin, Ruth – PersonEntity: Name: NameFull: Swanner, Katie – PersonEntity: Name: NameFull: Ferreira, Carlos R. – PersonEntity: Name: NameFull: Ziegler, Shira G. IsPartOfRelationships: – BibEntity: Dates: – D: 19 M: 11 Text: 11/19/2025 Type: published Y: 2025 Identifiers: – Type: issn-print Value: 17501172 Numbering: – Type: volume Value: 20 – Type: issue Value: 1 Titles: – TitleFull: Orphanet Journal of Rare Diseases Type: main |
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