Pathogenic Variants in HGSNAT associated with Autosomal Recessive Retinitis Pigmentosa without Overt Sanfilippo Syndrome.
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| Title: | Pathogenic Variants in HGSNAT associated with Autosomal Recessive Retinitis Pigmentosa without Overt Sanfilippo Syndrome. |
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| Authors: | Haefeli LM; The University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., Paredes DI; Departamento de Oftalmologia, Facultad de Medicina, Pontificia Universidad Catolica de Chile, Santiago de Chile., Wyman CS; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, Rochester, New York.; Clinical Genetics, Golisano Children's Hospital, University of Rochester, Rochester, New York., Capasso JE; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, Rochester, New York.; Clinical Genetics, Golisano Children's Hospital, University of Rochester, Rochester, New York., Chattannavar G; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, Rochester, New York.; Jasti V Ramanamma Children's Eye Care Centre, Child Sight Institute, L V Prasad Eye Institute, Hyderabad, India ., Khetan V; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, Rochester, New York., Tallis E; Clinical Genetics, Golisano Children's Hospital, University of Rochester, Rochester, New York., Levin AV; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, Rochester, New York.; Clinical Genetics, Golisano Children's Hospital, University of Rochester, Rochester, New York. |
| Source: | Retinal cases & brief reports [Retin Cases Brief Rep] 2026 Jul 06. Date of Electronic Publication: 2026 Jul 06. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Wolters Kluwer Health Country of Publication: United States NLM ID: 101298744 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1937-1578 (Electronic) Linking ISSN: 19351089 NLM ISO Abbreviation: Retin Cases Brief Rep Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 42351339 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Pathogenic Variants in HGSNAT associated with Autosomal Recessive Retinitis Pigmentosa without Overt Sanfilippo Syndrome. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Haefeli+LM%22">Haefeli LM</searchLink>; The University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa.<br /><searchLink fieldCode="AU" term="%22Paredes+DI%22">Paredes DI</searchLink>; Departamento de Oftalmologia, Facultad de Medicina, Pontificia Universidad Catolica de Chile, Santiago de Chile.<br /><searchLink fieldCode="AU" term="%22Wyman+CS%22">Wyman CS</searchLink>; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, Rochester, New York.; Clinical Genetics, Golisano Children's Hospital, University of Rochester, Rochester, New York.<br /><searchLink fieldCode="AU" term="%22Capasso+JE%22">Capasso JE</searchLink>; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, Rochester, New York.; Clinical Genetics, Golisano Children's Hospital, University of Rochester, Rochester, New York.<br /><searchLink fieldCode="AU" term="%22Chattannavar+G%22">Chattannavar G</searchLink>; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, Rochester, New York.; Jasti V Ramanamma Children's Eye Care Centre, Child Sight Institute, L V Prasad Eye Institute, Hyderabad, India .<br /><searchLink fieldCode="AU" term="%22Khetan+V%22">Khetan V</searchLink>; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, Rochester, New York.<br /><searchLink fieldCode="AU" term="%22Tallis+E%22">Tallis E</searchLink>; Clinical Genetics, Golisano Children's Hospital, University of Rochester, Rochester, New York.<br /><searchLink fieldCode="AU" term="%22Levin+AV%22">Levin AV</searchLink>; Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, Rochester, New York.; Clinical Genetics, Golisano Children's Hospital, University of Rochester, Rochester, New York. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101298744%22">Retinal cases & brief reports</searchLink> [Retin Cases Brief Rep] 2026 Jul 06. <i>Date of Electronic Publication: </i>2026 Jul 06. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wolters+Kluwer+Health%22">Wolters Kluwer Health </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101298744 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1937-1578 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2219351089%22">19351089 </searchLink><i>NLM ISO Abbreviation: </i>Retin Cases Brief Rep <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42351339 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1097/ICB.0000000000001839 Languages: – Code: eng Text: English Titles: – TitleFull: Pathogenic Variants in HGSNAT associated with Autosomal Recessive Retinitis Pigmentosa without Overt Sanfilippo Syndrome. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Haefeli LM – PersonEntity: Name: NameFull: Paredes DI – PersonEntity: Name: NameFull: Wyman CS – PersonEntity: Name: NameFull: Capasso JE – PersonEntity: Name: NameFull: Chattannavar G – PersonEntity: Name: NameFull: Khetan V – PersonEntity: Name: NameFull: Tallis E – PersonEntity: Name: NameFull: Levin AV IsPartOfRelationships: – BibEntity: Dates: – D: 06 M: 07 Text: 2026 Jul 06 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1937-1578 Titles: – TitleFull: Retinal cases & brief reports Type: main |
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