Anna Caciotti

TL;DR: A molecular testing algorithm designed to help diagnosing MPS IVA and foreseeing disease progression is defined and two new large deletions are characterized and their corresponding breakpoints are characterized.

TL;DR: Comparative analysis of the patients' phenotypes enabled a more thorough correlation between GLB1 mutations and specific clinical manifestations, and the accurate and fast method for the detection of alternatively spliced transcripts of the GLBs could be applied to other disease‐causing lysosomal genes that encode multiple mRNAs.

TL;DR: Molecular analysis and in silico tools are able to characterise ACADS variants, identifying the severe mutations and consequently indicating which patients could benefit from a long term follow- up, and it is emphasised that synonymous mutations can be relevant features and potentially associated with SCADD.

TL;DR: It is concluded that genetic characterization is an important requirement to alert physicians about the management of similar patients, especially when anesthesia is considered, after a large Italian family affected by a severe form of HypoPP.

TL;DR: Results indicate that the c.1445G>A mutation, which appears to be responsible for all GM1 gangliosidosis alleles in this Cypriot village, affects protein conformation.