A recurrent GNE variant causing GNE myopathy in unrelated patients from Pakistan: a case series.
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| Title: | A recurrent GNE variant causing GNE myopathy in unrelated patients from Pakistan: a case series. |
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| Authors: | Saleem, Shafaq1 (AUTHOR) shafaq.saleem@aku.edu, Akbar, Fizza2 (AUTHOR) fizza.akbar@aku.edu, Kirmani, Salman2 (AUTHOR) salman.kirmani@aku.edu, Khalid, Ehtesham3 (AUTHOR) dr.ehtesham@yahoo.com, Khan, Sara1 (AUTHOR) sara.khan@aku.edu |
| Source: | Journal of Medical Case Reports. 8/30/2025, Vol. 19 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: 187668522 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A recurrent GNE variant causing GNE myopathy in unrelated patients from Pakistan: a case series. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Saleem%2C+Shafaq%22">Saleem, Shafaq</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> shafaq.saleem@aku.edu</i><br /><searchLink fieldCode="AR" term="%22Akbar%2C+Fizza%22">Akbar, Fizza</searchLink><relatesTo>2</relatesTo> (AUTHOR)<i> fizza.akbar@aku.edu</i><br /><searchLink fieldCode="AR" term="%22Kirmani%2C+Salman%22">Kirmani, Salman</searchLink><relatesTo>2</relatesTo> (AUTHOR)<i> salman.kirmani@aku.edu</i><br /><searchLink fieldCode="AR" term="%22Khalid%2C+Ehtesham%22">Khalid, Ehtesham</searchLink><relatesTo>3</relatesTo> (AUTHOR)<i> dr.ehtesham@yahoo.com</i><br /><searchLink fieldCode="AR" term="%22Khan%2C+Sara%22">Khan, Sara</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> sara.khan@aku.edu</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Journal+of+Medical+Case+Reports%22">Journal of Medical Case Reports</searchLink>. 8/30/2025, Vol. 19 Issue 1, p1-5. 5p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=187668522 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13256-025-05524-4 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 5 StartPage: 1 Titles: – TitleFull: A recurrent GNE variant causing GNE myopathy in unrelated patients from Pakistan: a case series. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Saleem, Shafaq – PersonEntity: Name: NameFull: Akbar, Fizza – PersonEntity: Name: NameFull: Kirmani, Salman – PersonEntity: Name: NameFull: Khalid, Ehtesham – PersonEntity: Name: NameFull: Khan, Sara IsPartOfRelationships: – BibEntity: Dates: – D: 30 M: 08 Text: 8/30/2025 Type: published Y: 2025 Identifiers: – Type: issn-print Value: 17521947 Numbering: – Type: volume Value: 19 – Type: issue Value: 1 Titles: – TitleFull: Journal of Medical Case Reports Type: main |
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