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BBA Clinical|April 7, 2016
Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutationRodolfo Tonin, Anna Caciotti, Silvia Funghini, et al.Human Mutation|August 13, 2021
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variantsAlessandra Zanetti, Francesca D'Avanzo, Moeenaldeen AlSayed, et al.Scientific Reports|November 29, 2019
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside contentRodolfo Tonin, Anna Caciotti, Elena Procopio, 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.Human Mutation|December 30, 2014
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutationsAnna Caciotti, Rodolfo Tonin, Miriam Rigoldi, et al.Pageof 3