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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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第一作者： Gabriel,Schacht

第一单位： Department of Pediatrics, Division of Neuropediatrics and Social Pediatrics, University Hospital RWTH Aachen, Aachen, Germany. gabriel-schacht@web.de.

作者： Gabriel,Schacht ^[1] ; Miriam,Elbracht ^[2] ; Anna-Elisabeth,Minder ^[3] ; Thomas,Stauch ^[4] ; Arzu,Stoppe ^[5] ; Eva,Lausberg ^[2] ; Martin,Häusler ^[5]

作者单位： Department of Pediatrics, Division of Neuropediatrics and Social Pediatrics, University Hospital RWTH Aachen, Aachen, Germany. gabriel-schacht@web.de. ^[1] Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany. ^[2] Division of Endocrinology, Diabetology, Porphyria, Stadtspital Zurich, Triemli, Zurich, Switzerland. ^[3] MVZ Labor PD Dr. Volkmann GbR, Karlsruhe, Germany. ^[4] Department of Pediatrics, Division of Neuropediatrics and Social Pediatrics, University Hospital RWTH Aachen, Aachen, Germany. ^[5]

关键词 5-aminolevulinic acid Case report Hydroxymethylbilane synthase Leukoencephalopathy Porphyria