Iron chelation has been introduced as a new therapeutic concept for the treatment of
neurodegenerative diseases with features of iron overload. At difference with iron chelators …

The syndromes of neurodegeneration with brain iron accumulation (NBIA) encompass a
group of invalidating and progressive rare diseases that share the abnormal accumulation of …

Juvenile parkinsonism is arbitrarily defined as parkinsonian symptoms and signs presenting
prior to 21 years of age. Levodopa-responsive juvenile parkinsonism that is consistent with …

Neurodegeneration with brain iron accumulation (NBIA) is a set of neurodegenerative
disorders, which includes very rare monogenetic diseases. They are heterogeneous in …

Neurodegeneration with Brain Iron Accumulation Disorders Overview - GeneReviews® - NCBI
Bookshelf US flag An official website of the United States government Here's how you know NIH …

Mitochondrial diseases are a broad, genetically heterogeneous class of metabolic disorders
characterized by deficits in oxidative phosphorylation (OXPHOS). Primary mitochondrial …

Coenzyme A (CoA) is an essential cofactor in all living organisms. It is involved in a large
number of biochemical processes functioning either as an activator of molecules with …

Coenzyme A (CoA) is a vital and ubiquitous cofactor required in a vast number of enzymatic
reactions and cellular processes. To date, four rare human inborn errors of CoA biosynthesis …

Most neurodegeneration with brain iron accumulation (NBIA) disorders can be distinguished
by identifying characteristic changes on magnetic resonance imaging (MRI) in combination …

Dear Editor, Human coenzyme A synthase (COASY) encodes a bifunctional enzyme
containing 4'PP adenyltransferase (PPAT) and dephospho-CoA kinase (DPCK) domains …