Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report.
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| Title: | Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report. |
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| Authors: | Schacht G; Department of Pediatrics, Division of Neuropediatrics and Social Pediatrics, University Hospital RWTH Aachen, Aachen, Germany. gabriel-schacht@web.de., Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany., Minder AE; Division of Endocrinology, Diabetology, Porphyria, Stadtspital Zurich, Triemli, Zurich, Switzerland., Stauch T; MVZ Labor PD Dr. Volkmann GbR, Karlsruhe, Germany., Stoppe A; Department of Pediatrics, Division of Neuropediatrics and Social Pediatrics, University Hospital RWTH Aachen, Aachen, Germany., Lausberg E; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany., Häusler M; Department of Pediatrics, Division of Neuropediatrics and Social Pediatrics, University Hospital RWTH Aachen, Aachen, Germany. |
| Source: | Journal of medical case reports [J Med Case Rep] 2026 Feb 23; Vol. 20 (1). Date of Electronic Publication: 2026 Feb 23. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947 (Electronic) Linking ISSN: 17521947 NLM ISO Abbreviation: J Med Case Rep Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41731635 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Schacht+G%22">Schacht G</searchLink>; Department of Pediatrics, Division of Neuropediatrics and Social Pediatrics, University Hospital RWTH Aachen, Aachen, Germany. gabriel-schacht@web.de.<br /><searchLink fieldCode="AU" term="%22Elbracht+M%22">Elbracht M</searchLink>; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.<br /><searchLink fieldCode="AU" term="%22Minder+AE%22">Minder AE</searchLink>; Division of Endocrinology, Diabetology, Porphyria, Stadtspital Zurich, Triemli, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Stauch+T%22">Stauch T</searchLink>; MVZ Labor PD Dr. Volkmann GbR, Karlsruhe, Germany.<br /><searchLink fieldCode="AU" term="%22Stoppe+A%22">Stoppe A</searchLink>; Department of Pediatrics, Division of Neuropediatrics and Social Pediatrics, University Hospital RWTH Aachen, Aachen, Germany.<br /><searchLink fieldCode="AU" term="%22Lausberg+E%22">Lausberg E</searchLink>; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.<br /><searchLink fieldCode="AU" term="%22Häusler+M%22">Häusler M</searchLink>; Department of Pediatrics, Division of Neuropediatrics and Social Pediatrics, University Hospital RWTH Aachen, Aachen, Germany. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101293382%22">Journal of medical case reports</searchLink> [J Med Case Rep] 2026 Feb 23; Vol. 20 (1). <i>Date of Electronic Publication: </i>2026 Feb 23. – 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="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101293382 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1752-1947 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217521947%22">17521947 </searchLink><i>NLM ISO Abbreviation: </i>J Med Case Rep <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41731635 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13256-026-05879-2 Languages: – Code: eng Text: English Titles: – TitleFull: Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Schacht G – PersonEntity: Name: NameFull: Elbracht M – PersonEntity: Name: NameFull: Minder AE – PersonEntity: Name: NameFull: Stauch T – PersonEntity: Name: NameFull: Stoppe A – PersonEntity: Name: NameFull: Lausberg E – PersonEntity: Name: NameFull: Häusler M IsPartOfRelationships: – BibEntity: Dates: – D: 23 M: 02 Text: 2026 Feb 23 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1752-1947 Numbering: – Type: volume Value: 20 – Type: issue Value: 1 Titles: – TitleFull: Journal of medical case reports Type: main |
| ResultId | 1 |
