Congenital diarrhoeal disorders (CDDs) represent an evolving web of rare chronic
enteropathies, with a typical onset early in life. In many of these conditions, severe chronic …

Inherited liver diseases are a group of metabolic and genetic defects that typically cause
early chronic liver involvement. Most are due to a defect of an enzyme/transport protein that …

Background In recent years, patients with cystic fibrosis (CF) conductance regulator (CFTR)
variant poly (T) sequences have been increasingly reported with a wide spectrum of clinical …

Background: Cystic fibrosis transmembrane conductance regulator (CFTR) modulators
represent targeted therapies directly acting on the CFTR channel. The triple therapy …

Background The effect of complex alleles in cystic fibrosis (CF) is poorly defined for the lack
of functional studies. Objectives To describe the genotype–phenotype correlation and the …

The new CFTR modulator combination, elexacaftor/tezacaftor/ivacaftor (Trikafta) was
approved by the FDA in October 2019 for treatment of Cystic Fibrosis in patients 6 years of …

In cystic fibrosis (CF) patients airways mucus shows an increased viscoelasticity due to the
concentration of high molecular weight components. Such mucus thickening eventually …

The clinical manifestation of cystic fibrosis (CF) is heterogeneous also in patients with the
same cystic fibrosis transmembrane regulator (CFTR) genotype and in affected sibling pairs …

Background A clinical heterogeneity was reported in patients with Cystic Fibrosis (CF) with
the same CFTR genotype and between siblings with CF. Methods We investigated all …

Objective Cystic fibrosis (CF) is the most common inherited, life limiting condition among
Caucasians. No healing therapy is currently available for patients with CF. The aim of the …