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Genes|July 15, 2020
Mitochondrial PCK2 Missense Variant in Shetland Sheepdogs with Paroxysmal Exercise-Induced Dyskinesia (PED)Jasmin Nessler, Petra Hug, Paul J J Mandigers, et al.
Biochimica Et Biophysica Acta|April 6, 2010
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patientsAndré B P van Kuilenburg, Doreen Dobritzsch, Judith Meijer, 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.
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