Clinical and molecular characteristics of fructose 1, 6 bisphosphatase deficiency in 6 Egyptian patients and two common variants.
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| Title: | Clinical and molecular characteristics of fructose 1, 6 bisphosphatase deficiency in 6 Egyptian patients and two common variants. |
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| Authors: | Elsayed SM; Department of Medical Genetics, Faculty of Medicine, Ain Shams University, Cairo, Egypt., Mahmoud RG; Department of Medical Genetics, Faculty of Medicine, Ain Shams University, Cairo, Egypt., Fereig YA; Department of Pediatrics, Faculty of Medicine, Ain Shams University, Cairo, Egypt. yasmeen8591@gmail.com. |
| Source: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Nov 20; Vol. 20 (1), pp. 595. Date of Electronic Publication: 2025 Nov 20. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41267090 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Clinical and molecular characteristics of fructose 1, 6 bisphosphatase deficiency in 6 Egyptian patients and two common variants. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Elsayed+SM%22">Elsayed SM</searchLink>; Department of Medical Genetics, Faculty of Medicine, Ain Shams University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Mahmoud+RG%22">Mahmoud RG</searchLink>; Department of Medical Genetics, Faculty of Medicine, Ain Shams University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Fereig+YA%22">Fereig YA</searchLink>; Department of Pediatrics, Faculty of Medicine, Ain Shams University, Cairo, Egypt. yasmeen8591@gmail.com. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2025 Nov 20; Vol. 20 (1), pp. 595. <i>Date of Electronic Publication: </i>2025 Nov 20. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101266602 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1750-1172 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217501172%22">17501172 </searchLink><i>NLM ISO Abbreviation: </i>Orphanet J Rare Dis <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41267090 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13023-025-04100-9 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 595 Titles: – TitleFull: Clinical and molecular characteristics of fructose 1, 6 bisphosphatase deficiency in 6 Egyptian patients and two common variants. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Elsayed SM – PersonEntity: Name: NameFull: Mahmoud RG – PersonEntity: Name: NameFull: Fereig YA IsPartOfRelationships: – BibEntity: Dates: – D: 20 M: 11 Text: 2025 Nov 20 Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1750-1172 Numbering: – Type: volume Value: 20 – Type: issue Value: 1 Titles: – TitleFull: Orphanet journal of rare diseases Type: main |
| ResultId | 1 |
