Hypomyelinating leukodystrophies represent a genetically heterogeneous but clinically
overlapping group of heritable disorders. Current management approaches in the care of …

The neuronal ceroid lipofuscinoses comprise a group of neurodegenerative lysosomal
storage disorders caused by mutations in at least 13 different genes and primarily affect the …

For the majority of families affected by one of the neuronal ceroid lipofuscinoses (NCLs), a
biochemical and/or genetic diagnosis can be achieved. In an individual case this information …

Friedreich's ataxia is the most common inherited ataxia. Ninety‐six percent of patients are
homozygous for GAA trinucleotide repeat expansions in the first intron of the frataxin gene …

In order to estimate the cumulative incidence rates of the mucopolysaccharidoses (MPS) in
Germany, a retrospective epidemiological survey covering the period between 1980 and …

Background Recombinant human tripeptidyl peptidase 1 (cerliponase alfa) is an enzyme-
replacement therapy that has been developed to treat neuronal ceroid lipofuscinosis type 2 …

Alpha-Tocopherol is a classical lipophilic antioxidant well known as a scavenger of free
radicals in a hydrophobic milieu. However, it can develop both anti-and prooxidant activity in …

The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage disorders and together
are the most common degenerative brain diseases in childhood. They are a group of …

State failure, ethnopolitical war, genocide, famine, and refugee flows are variants of a type of
complex political and humanitarian crisis, exemplified during the 1990s in places like …

The impairment of nitric oxide (NO)-mediated vasodilation in diabetes has been attributed to
increased vascular oxidative stress. Lipoic acid has been shown to have substantial …