Catia Cavicchi

TL;DR: The classical form is mainly characterised, in affected hemizygous males, by angiokeratoma, acroparaesthesias, hypohidrosis, pains, fever crises, and involvement of the kidneys, brain, and heart, while the cardiac variant is characterised by symptoms restricted to cardiac abnormalities.

TL;DR: The hypothesis that an active site-specific chemical chaperone, which could be administered orally, might be effective in treating GAL-A conformational defects is endorsed, paving the way for conformational FD.

TL;DR: The genetic characterization of two patients with Type II sialidosis exhibiting the congenital (P1) and infantile forms (P2) showed one known NEU1 missense mutation, and the new c.807 + 1G > A splicing defect (detected in P1), a genetic lesion that is extremely rare in this disease.

TL;DR: In an expanded newborn screening program for inborn errors of metabolism by LC-MS/MS in Tuscany, six newborns showed decreased blood citrulline levels, and molecular analysis of the OTC gene identified the known p.Trp265Leu mutation, which is correlated with late-onset ornithine transcarbamylase deficiency (OTCD).

TL;DR: Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.