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Journal of Inherited Metabolic Disease|February 2, 2019
Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuriaAndrea Pilotto, Nenad Blau, Edytha Leks, et al.Neurology|October 23, 2020
Phenylalanine Effects on Brain Function in Adult PhenylketonuriaAndrea Pilotto, Carl M Zipser, Edytha Leks, et al.Journal of Inherited Metabolic Disease|March 7, 2014
Clinical presentation and outcome in a series of 88 patients with the cblC defectSabine Fischer, Martina Huemer, Matthias Baumgartner, et al.Journal of Inherited Metabolic Disease|May 31, 2015
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiencyMartina Huemer, Regina Mulder-Bleile, Patricie Burda, et al.Pageof 3