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Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report.

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Bibliographic Details
Title: Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report.
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
Description
ISSN:1752-1947
DOI:10.1186/s13256-026-05879-2