Cardiovascular Gaucher Disease Type 3c Associated With Homozygous Asp448His GBA1 Variant: First Case Series From Kuwait.
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| Title: | Cardiovascular Gaucher Disease Type 3c Associated With Homozygous Asp448His GBA1 Variant: First Case Series From Kuwait. |
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| Authors: | Alsharhan H; Department of Pediatrics, Health Sciences Centre, College of Medicine, Kuwait University, Kuwait.; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait.; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Alkurd F; Department of Pediatrics, Health Sciences Centre, College of Medicine, Kuwait University, Kuwait., Ebrahim MA; Department of Pediatrics, Health Sciences Centre, College of Medicine, Kuwait University, Kuwait.; Cardiology Department, Chest Hospital, Ministry of Health, Kuwait., Ali NY; Department of Radiology, Ibn Sina Hospital, Ministry of Health, Sulaibikhat, Kuwait., Ali AA; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.; Department of Pediatrics, Zagazig University, Zagazig, Egypt., Elshafie RM; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait., Ramadan DG; Department of Pediatrics, Sabah Hospital, Ministry of Health, Sulaibikhat, Kuwait., Abdulmalek K; Department of Anesthesia and Critical Care, Al-Amiri Hospital, Ministry of Health, Kuwait City, Kuwait., Dhaunsi GS; Department of Pediatrics, Health Sciences Centre, College of Medicine, Kuwait University, Kuwait., Albash B; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait., Bastaki L; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2025 Oct; Vol. 197 (10), pp. e64148. Date of Electronic Publication: 2025 Jun 09. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 40491257 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Cardiovascular Gaucher Disease Type 3c Associated With Homozygous Asp448His GBA1 Variant: First Case Series From Kuwait. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Alsharhan+H%22">Alsharhan H</searchLink>; Department of Pediatrics, Health Sciences Centre, College of Medicine, Kuwait University, Kuwait.; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait.; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.<br /><searchLink fieldCode="AU" term="%22Alkurd+F%22">Alkurd F</searchLink>; Department of Pediatrics, Health Sciences Centre, College of Medicine, Kuwait University, Kuwait.<br /><searchLink fieldCode="AU" term="%22Ebrahim+MA%22">Ebrahim MA</searchLink>; Department of Pediatrics, Health Sciences Centre, College of Medicine, Kuwait University, Kuwait.; Cardiology Department, Chest Hospital, Ministry of Health, Kuwait.<br /><searchLink fieldCode="AU" term="%22Ali+NY%22">Ali NY</searchLink>; Department of Radiology, Ibn Sina Hospital, Ministry of Health, Sulaibikhat, Kuwait.<br /><searchLink fieldCode="AU" term="%22Ali+AA%22">Ali AA</searchLink>; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.; Department of Pediatrics, Zagazig University, Zagazig, Egypt.<br /><searchLink fieldCode="AU" term="%22Elshafie+RM%22">Elshafie RM</searchLink>; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait.<br /><searchLink fieldCode="AU" term="%22Ramadan+DG%22">Ramadan DG</searchLink>; Department of Pediatrics, Sabah Hospital, Ministry of Health, Sulaibikhat, Kuwait.<br /><searchLink fieldCode="AU" term="%22Abdulmalek+K%22">Abdulmalek K</searchLink>; Department of Anesthesia and Critical Care, Al-Amiri Hospital, Ministry of Health, Kuwait City, Kuwait.<br /><searchLink fieldCode="AU" term="%22Dhaunsi+GS%22">Dhaunsi GS</searchLink>; Department of Pediatrics, Health Sciences Centre, College of Medicine, Kuwait University, Kuwait.<br /><searchLink fieldCode="AU" term="%22Albash+B%22">Albash B</searchLink>; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait.<br /><searchLink fieldCode="AU" term="%22Bastaki+L%22">Bastaki L</searchLink>; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2025 Oct; Vol. 197 (10), pp. e64148. <i>Date of Electronic Publication: </i>2025 Jun 09. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Case Reports – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40491257 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.a.64148 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: e64148 Titles: – TitleFull: Cardiovascular Gaucher Disease Type 3c Associated With Homozygous Asp448His GBA1 Variant: First Case Series From Kuwait. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Alsharhan H – PersonEntity: Name: NameFull: Alkurd F – PersonEntity: Name: NameFull: Ebrahim MA – PersonEntity: Name: NameFull: Ali NY – PersonEntity: Name: NameFull: Ali AA – PersonEntity: Name: NameFull: Elshafie RM – PersonEntity: Name: NameFull: Ramadan DG – PersonEntity: Name: NameFull: Abdulmalek K – PersonEntity: Name: NameFull: Dhaunsi GS – PersonEntity: Name: NameFull: Albash B – PersonEntity: Name: NameFull: Bastaki L IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 10 Text: 2025 Oct Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1552-4833 Numbering: – Type: volume Value: 197 – Type: issue Value: 10 Titles: – TitleFull: American journal of medical genetics. Part A Type: main |
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