An atypical presentation in a child with propionic acidemia? Better think twice!
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| Title: | An atypical presentation in a child with propionic acidemia? Better think twice! |
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| Authors: | Burkhardt T; Medical Faculty, Center for Pediatrics and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine Heidelberg University Heidelberg Germany., Kastor KL; Department of Pediatrics and Adolescent Medicine Marienhaus Klinikum St. Elisabeth Neuwied Neuwied Germany., Christ S; Medical Faculty, Center for Pediatrics and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine Heidelberg University Heidelberg Germany., Opladen T; Medical Faculty, Center for Pediatrics and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine Heidelberg University Heidelberg Germany., Staufner C; Medical Faculty, Center for Pediatrics and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine Heidelberg University Heidelberg Germany., Beck-Wödl S; Institute of Medical Genetics and Applied Genomics, Eberhard Karls University Tübingen Tübingen Germany., Haack T; Institute of Medical Genetics and Applied Genomics, Eberhard Karls University Tübingen Tübingen Germany., Hempel M; Medical Faculty, Institute of Human Genetics Heidelberg University Heidelberg Germany., Seitz A; Medical Faculty, Department of Neuroradiology Heidelberg University Heidelberg Germany., Kölker S; Medical Faculty, Center for Pediatrics and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine Heidelberg University Heidelberg Germany. |
| Source: | JIMD reports [JIMD Rep] 2025 Mar 12; Vol. 66 (2), pp. e12464. Date of Electronic Publication: 2025 Mar 12 (Print Publication: 2025). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 40078824 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: An atypical presentation in a child with propionic acidemia? Better think twice! – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Burkhardt+T%22">Burkhardt T</searchLink>; Medical Faculty, Center for Pediatrics and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine Heidelberg University Heidelberg Germany.<br /><searchLink fieldCode="AU" term="%22Kastor+KL%22">Kastor KL</searchLink>; Department of Pediatrics and Adolescent Medicine Marienhaus Klinikum St. Elisabeth Neuwied Neuwied Germany.<br /><searchLink fieldCode="AU" term="%22Christ+S%22">Christ S</searchLink>; Medical Faculty, Center for Pediatrics and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine Heidelberg University Heidelberg Germany.<br /><searchLink fieldCode="AU" term="%22Opladen+T%22">Opladen T</searchLink>; Medical Faculty, Center for Pediatrics and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine Heidelberg University Heidelberg Germany.<br /><searchLink fieldCode="AU" term="%22Staufner+C%22">Staufner C</searchLink>; Medical Faculty, Center for Pediatrics and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine Heidelberg University Heidelberg Germany.<br /><searchLink fieldCode="AU" term="%22Beck-Wödl+S%22">Beck-Wödl S</searchLink>; Institute of Medical Genetics and Applied Genomics, Eberhard Karls University Tübingen Tübingen Germany.<br /><searchLink fieldCode="AU" term="%22Haack+T%22">Haack T</searchLink>; Institute of Medical Genetics and Applied Genomics, Eberhard Karls University Tübingen Tübingen Germany.<br /><searchLink fieldCode="AU" term="%22Hempel+M%22">Hempel M</searchLink>; Medical Faculty, Institute of Human Genetics Heidelberg University Heidelberg Germany.<br /><searchLink fieldCode="AU" term="%22Seitz+A%22">Seitz A</searchLink>; Medical Faculty, Department of Neuroradiology Heidelberg University Heidelberg Germany.<br /><searchLink fieldCode="AU" term="%22Kölker+S%22">Kölker S</searchLink>; Medical Faculty, Center for Pediatrics and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine Heidelberg University Heidelberg Germany. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101568557%22">JIMD reports</searchLink> [JIMD Rep] 2025 Mar 12; Vol. 66 (2), pp. e12464. <i>Date of Electronic Publication: </i>2025 Mar 12 (<i>Print Publication: </i>2025). – 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="%22Wiley%22">Wiley </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101568557 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2192-8304 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2221928304%22">21928304 </searchLink><i>NLM ISO Abbreviation: </i>JIMD Rep <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40078824 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/jmd2.12464 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: e12464 Titles: – TitleFull: An atypical presentation in a child with propionic acidemia? Better think twice! Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Burkhardt T – PersonEntity: Name: NameFull: Kastor KL – PersonEntity: Name: NameFull: Christ S – PersonEntity: Name: NameFull: Opladen T – PersonEntity: Name: NameFull: Staufner C – PersonEntity: Name: NameFull: Beck-Wödl S – PersonEntity: Name: NameFull: Haack T – PersonEntity: Name: NameFull: Hempel M – PersonEntity: Name: NameFull: Seitz A – PersonEntity: Name: NameFull: Kölker S IsPartOfRelationships: – BibEntity: Dates: – D: 12 M: 03 Text: 2025 Mar 12 Type: published Y: 2025 Identifiers: – Type: issn-print Value: 2192-8304 Numbering: – Type: volume Value: 66 – Type: issue Value: 2 Titles: – TitleFull: JIMD reports Type: main |
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