Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls.
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| Title: | Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls. |
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| Authors: | Gayed MM; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, United States., Sgobbi P; Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, University of São Paulo (UNIFESP), São Paulo, Brazil., Pinto WBVR; Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, University of São Paulo (UNIFESP), São Paulo, Brazil., Kishnani PS; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, United States., Koch RL; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, United States. |
| Source: | Frontiers in genetics [Front Genet] 2023 Dec 18; Vol. 14, pp. 1282790. Date of Electronic Publication: 2023 Dec 18 (Print Publication: 2023). |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 38164512 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Gayed+MM%22">Gayed MM</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, United States.<br /><searchLink fieldCode="AU" term="%22Sgobbi+P%22">Sgobbi P</searchLink>; Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, University of São Paulo (UNIFESP), São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Pinto+WBVR%22">Pinto WBVR</searchLink>; Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, University of São Paulo (UNIFESP), São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Kishnani+PS%22">Kishnani PS</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, United States.<br /><searchLink fieldCode="AU" term="%22Koch+RL%22">Koch RL</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, United States. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101560621%22">Frontiers in genetics</searchLink> [Front Genet] 2023 Dec 18; Vol. 14, pp. 1282790. <i>Date of Electronic Publication: </i>2023 Dec 18 (<i>Print Publication: </i>2023). – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation%22">Frontiers Research Foundation </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101560621 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1664-8021 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216648021%22">16648021 </searchLink><i>NLM ISO Abbreviation: </i>Front Genet <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=38164512 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3389/fgene.2023.1282790 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1282790 Titles: – TitleFull: Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Gayed MM – PersonEntity: Name: NameFull: Sgobbi P – PersonEntity: Name: NameFull: Pinto WBVR – PersonEntity: Name: NameFull: Kishnani PS – PersonEntity: Name: NameFull: Koch RL IsPartOfRelationships: – BibEntity: Dates: – D: 18 M: 12 Text: 2023 Dec 18 Type: published Y: 2023 Identifiers: – Type: issn-print Value: 1664-8021 Numbering: – Type: volume Value: 14 Titles: – TitleFull: Frontiers in genetics Type: main |
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