Anna Caciotti

TL;DR: Sequence analysis of plasmid DNA extracted from E. coli Cam r colonies revealed that the insertion of IS10R mobile element, transposed from the bacterial chromosome, occur- red soon upstream of cam gene rendering it transcriptable by the host RNA-polymerase, allowing the surviving of the E.E. coli cells in the presence of the antibiotic.

TL;DR: In a newborn with very precocious liver failure, cholestatic jaundice, and low γ-glutamyl transpeptidase, progressive hepatosplenomegaly induced a progressively worsening respiratory distress, that was successfully treated with steroids, it is suggested that hereditary hemochromatosis ought to be included in the panel of the possible causes of neonatalCholestasis.

TL;DR: The case of a 31-month-old female child referred to the authors' center after the detection of increased 3-hydroxyisovalerylcarnitine levels at newborn screening and the presence of two microdeletions in compound heterozygosity encompassing the AUH gene, which confirmed the diagnosis of MGCA1, exemplifies the importance of the biochemical phenotype in the differential diagnosis of metabolic diseases.

TL;DR: Five new trihydroxypiperidine iminosugars are synthesized with the aim of identifying new pharmacological chaperones for GM1 gangliosidosis and compound 12 showed chaperoning properties since it enhanced β-Gal activity by 40% when tested on GM1 patients bearing the p.Ile51Asn/p.Arg201His mutations.

TL;DR: It is demonstrated that with the methods, it is possible to clearly distinguish the levels of accumulated metabolites in fibroblasts from affected and unaffected patients for all the three pathologies considered, and the methods proved to be rapid, sensitive, unbiased, and potentially applicable to other LSDs.