Fabry disease is an X-linked progressive lysosomal disorder, due to α-galactosidase A
deficiency. Patients with a classic phenotype usually present in childhood as a multisystemic …

Fabry disease (FD) is a progressive multisystemic lysosomal storage disease. Early
diagnosis by newborn screening (NBS) may allow for timely treatment, thus preventing …

Melanins are a class of biopolymers that are widespread in nature, with diverse origins,
compositions, and functions, and their chemical and optoelectronic properties render them …

A first-generation amperometric galactose biosensor has been systematically developed
utilizing layer-by-layer (LbL) construction of xerogels, polymers, and carbon nanotubes …

Fabry disease (FD) is a progressive multisystemic lysosomal storage disease. Early
diagnosis by newborn screening (NBS) may allow for timely treatment, thus preventing …

In the modern world, enzymes are not just catalysts but also “tools” that modify the process
based on the requirement. Enzymes hold key functions in the reactions where other …

The Portuguese Neonatal Screening Programme (PNSP) identifies patients with rare
diseases through nationwide screening. Currently covering approximately 100% of …

Rare diseases emerge in the volatile technicolour darkness that is childhood, reaching up to
five years to diagnose and greeting frontline healthcare providers (primary care physicians …