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 |
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