Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families.
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| Title: | Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families. |
|---|---|
| Authors: | Al Busaidi, Marwa1 (AUTHOR), Mohamed, Feda E.2,3 (AUTHOR), Al-Ajmi, Eiman4 (AUTHOR), Al Hashmi, Nadia5 (AUTHOR), Al-Thihli, Khalid6 (AUTHOR), Al Futaisi, Amna7 (AUTHOR), Al Mamari, Watfa7 (AUTHOR), Al-Murshedi, Fathiya6 (AUTHOR) murshedi@squ.edu.om, Al-Jasmi, Fatma2,3,8 (AUTHOR) aljasmif@uaeu.ac.ae |
| Source: | Orphanet Journal of Rare Diseases. 11/3/2023, Vol. 18 Issue 1, p1-10. 10p. |
| 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: 173431998 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Al+Busaidi%2C+Marwa%22">Al Busaidi, Marwa</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Mohamed%2C+Feda+E%2E%22">Mohamed, Feda E.</searchLink><relatesTo>2,3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Al-Ajmi%2C+Eiman%22">Al-Ajmi, Eiman</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Al+Hashmi%2C+Nadia%22">Al Hashmi, Nadia</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Al-Thihli%2C+Khalid%22">Al-Thihli, Khalid</searchLink><relatesTo>6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Al+Futaisi%2C+Amna%22">Al Futaisi, Amna</searchLink><relatesTo>7</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Al+Mamari%2C+Watfa%22">Al Mamari, Watfa</searchLink><relatesTo>7</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Al-Murshedi%2C+Fathiya%22">Al-Murshedi, Fathiya</searchLink><relatesTo>6</relatesTo> (AUTHOR)<i> murshedi@squ.edu.om</i><br /><searchLink fieldCode="AR" term="%22Al-Jasmi%2C+Fatma%22">Al-Jasmi, Fatma</searchLink><relatesTo>2,3,8</relatesTo> (AUTHOR)<i> aljasmif@uaeu.ac.ae</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Orphanet+Journal+of+Rare+Diseases%22">Orphanet Journal of Rare Diseases</searchLink>. 11/3/2023, Vol. 18 Issue 1, p1-10. 10p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=173431998 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13023-023-02946-5 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 10 StartPage: 1 Titles: – TitleFull: Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Al Busaidi, Marwa – PersonEntity: Name: NameFull: Mohamed, Feda E. – PersonEntity: Name: NameFull: Al-Ajmi, Eiman – PersonEntity: Name: NameFull: Al Hashmi, Nadia – PersonEntity: Name: NameFull: Al-Thihli, Khalid – PersonEntity: Name: NameFull: Al Futaisi, Amna – PersonEntity: Name: NameFull: Al Mamari, Watfa – PersonEntity: Name: NameFull: Al-Murshedi, Fathiya – PersonEntity: Name: NameFull: Al-Jasmi, Fatma IsPartOfRelationships: – BibEntity: Dates: – D: 03 M: 11 Text: 11/3/2023 Type: published Y: 2023 Identifiers: – Type: issn-print Value: 17501172 Numbering: – Type: volume Value: 18 – Type: issue Value: 1 Titles: – TitleFull: Orphanet Journal of Rare Diseases Type: main |
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