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Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report2026 Figshare other Biochemistry, Genetics and Molecular Biology Porphyrin Metabolism and Disorders Open access
Gabriel M. Schacht, Miriam Elbracht, Anna-Elisabeth Minder, Thomas Stauch, Arzu Stoppe, Eva Lausberg, +1 more
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