Identifying NDUFA12 mutation in a Saudi family: An unusual presentation of mitochondrial Complex I deficiency mimicking as idiopathic intracranial hypertension in a patient with papilledema and visual loss.
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| Title: | Identifying NDUFA12 mutation in a Saudi family: An unusual presentation of mitochondrial Complex I deficiency mimicking as idiopathic intracranial hypertension in a patient with papilledema and visual loss. |
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| Authors: | Alshamrani, Foziah J.1,2 (AUTHOR), Alajmi, Modhi S.1 (AUTHOR), Almuslim, Nora I.1 (AUTHOR) nmuslim@iau.edu.sa, Alsubaie, Muneerah M.3 (AUTHOR), Fardan, Ghadeer M.1 (AUTHOR), Alabdali, Majed M.1,2 (AUTHOR) |
| Source: | Journal of Family & Community Medicine. Jan-Mar2026, Vol. 33 Issue 1, p47-52. 6p. |
| 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: 190956140 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Identifying NDUFA12 mutation in a Saudi family: An unusual presentation of mitochondrial Complex I deficiency mimicking as idiopathic intracranial hypertension in a patient with papilledema and visual loss. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Alshamrani%2C+Foziah+J%2E%22">Alshamrani, Foziah J.</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Alajmi%2C+Modhi+S%2E%22">Alajmi, Modhi S.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Almuslim%2C+Nora+I%2E%22">Almuslim, Nora I.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> nmuslim@iau.edu.sa</i><br /><searchLink fieldCode="AR" term="%22Alsubaie%2C+Muneerah+M%2E%22">Alsubaie, Muneerah M.</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Fardan%2C+Ghadeer+M%2E%22">Fardan, Ghadeer M.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Alabdali%2C+Majed+M%2E%22">Alabdali, Majed M.</searchLink><relatesTo>1,2</relatesTo> (AUTHOR) – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Journal+of+Family+%26+Community+Medicine%22">Journal of Family & Community Medicine</searchLink>. Jan-Mar2026, Vol. 33 Issue 1, p47-52. 6p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=190956140 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.4103/jfcm.jfcm_322_25 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 6 StartPage: 47 Titles: – TitleFull: Identifying NDUFA12 mutation in a Saudi family: An unusual presentation of mitochondrial Complex I deficiency mimicking as idiopathic intracranial hypertension in a patient with papilledema and visual loss. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Alshamrani, Foziah J. – PersonEntity: Name: NameFull: Alajmi, Modhi S. – PersonEntity: Name: NameFull: Almuslim, Nora I. – PersonEntity: Name: NameFull: Alsubaie, Muneerah M. – PersonEntity: Name: NameFull: Fardan, Ghadeer M. – PersonEntity: Name: NameFull: Alabdali, Majed M. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 01 Text: Jan-Mar2026 Type: published Y: 2026 Identifiers: – Type: issn-print Value: 22308229 Numbering: – Type: volume Value: 33 – Type: issue Value: 1 Titles: – TitleFull: Journal of Family & Community Medicine Type: main |
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