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Molecular Biosystems|December 18, 2015
The proteome of methylmalonic acidemia (MMA): the elucidation of altered pathways in patient liversMarianna Caterino, Randy J Chandler, Jennifer L Sloan, et al.Clinical Biochemistry|September 11, 2014
Maternal vitamin B12 deficiency detected in expanded newborn screeningEmanuela Scolamiero, Guglielmo Rosario Domenico Villani, Laura Ingenito, et al.Journal of Inherited Metabolic Disease|January 15, 2015
The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humansMarianna Caterino, Anna Pastore, Maria Grazia Strozziero, et al.Molecular Genetics and Metabolism|April 12, 2026
Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burdenSabrina Malvagia, Marta Daniotti, Rodolfo Tonin, et al.Scientific Reports|April 27, 2017
The complete 12 Mb genome and transcriptome of Nonomuraea gerenzanensis with new insights into its duplicated "magic" RNA polymeraseValeria D'Argenio, Mauro Petrillo, Daniela Pasanisi, et al.Molecular Biosystems|February 18, 2015
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolismEmanuela Scolamiero, Carla Cozzolino, Lucia Albano, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 7, 2012
Enhanced interpretation of newborn screening results without analyte cutoff valuesGregg Marquardt, Robert Currier, David M S McHugh, et al.Pageof 2