Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and
genetically heterogeneous group of disorders affecting children and adults. These rare …

Neurodegeneration with brain iron accumulation (NBIA) encompasses a group of inherited
disorders that share the clinical features of an extrapyramidal movement disorder …

Within the last few years, knowledge about vitamins has increased dramatically. This new
edition of a bestseller presents comprehensive summaries that analyze the chemical …

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

Our understanding of the syndromes of Neurodegeneration with Brain Iron Accumulation
(NBIA) continues to grow considerably. In addition to the core syndromes of pantothenate …

2. Methods This guideline largely reflects the consensus opinion of clinical experts in PKAN.
In addition, peer-reviewed publications were systematically searched for, evaluated, and …

Recent MRI advances allow depicting differences between the various subtypes of NBIA,
providing a useful analytical framework for clinicians. Standardization of protocols for image …

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 …

Neurodegeneration with brain iron accumulation (NBIA) comprises a heterogeneous group
of disorders characterized by the presence of radiologically discernible high brain iron …

Pantothenate kinase-associated neurodegeneration (PKAN) is a type of neurodegeneration
with brain iron accumulation (NBIA). The phenotypic spectrum of PKAN includes classic …