Anna Caciotti

TL;DR: Clinical, biochemical and molecular analysis of five patients with sialidosis type I and the impact of these new mutations on the structural properties of NEU1 are discussed, with the aim of identifying the most frequent initial clinical manifestations and achieving more focused diagnoses.

TL;DR: The genetic heterogeneity of the â‐galactosidase deficiency in the Arabic population is revealed and four novel mutations and one previously reported mutation in the GLB1 gene are identified.

TL;DR: GALNS variants located within deep intronic regions that have the potential to impact splicing machinery are identified and incorporated into the diagnostic flow procedure for the molecular analysis of Morquio A disease.

TL;DR: It is confirmed that inborn errors of fatty acid oxidation represent one of the genetic causes of sudden unexpected deaths in infancy (SUDI) and underlines the importance to include systematically specific metabolic screening in any neonatal unexpected death.

TL;DR: A 14-month-old boy, with a previous diagnosis of propionic acidemia (PA) by expanded newborn screening, who, admitted for a suspected metabolic crisis, tested positive for SARS-CoV-2, is described in order to improve the knowledge about follow up of PA patients identified by newborn screening and to increase the limited number of reports of Sars-Cov-2 infection in children with comorbidities.