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Human Mutation|October 28, 2006
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) geneBarbara Plecko, Karl Paul, Eduard Paschke, et al.Journal of Inherited Metabolic Disease|June 8, 2026
Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and SwitzerlandSvenja Scharre, Annette L Hess, Florian Gleich, et al.Nature|November 17, 2017
Regeneration of the entire human epidermis using transgenic stem cellsTobias Hirsch, Tobias Rothoeft, Norbert Teig, et al.Pageof 5