Peroxisomes contain numerous enzymatic activities that are important for mammalian
physiology. Patients lacking either all peroxisomal functions or a single enzyme or …

Importance Adult-onset genetic disorders may present with clinical and magnetic resonance
imaging (MRI) features suggestive of acquired inflammatory diseases. An ever-growing …

Background X-linked adrenoleukodystrophy (X-ALD) is highly variable, ranging from slowly
progressive adrenomyeloneuropathy to severe brain demyelination and inflammation …

Abstract X-linked adrenoleukodystrophy (X-ALD), the most frequent monogenetic disorder of
brain white matter, is highly variable, ranging from slowly progressive …

The choroid plexuses (ChPs) perform indispensable functions for the development,
maintenance and functioning of the brain. Although they have gained considerable interest …

X-linked adrenoleukodystrophy (ALD) is an inherited progressive neurometabolic disease
caused by mutations in the ABCD1 gene and the accumulation of very long-chain fatty acids …

Importance Untreated childhood cerebral adrenoleukodystrophy (cALD) is a fatal disease
associated with progressive cerebral demyelination and rapid, devastating neurologic …

Background X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1
gene. 40% of X-ALD patients will convert to the deadly childhood cerebral form (ccALD) …

The leukodystrophies are a heterogeneous group of inherited diseases characterized by
progressive demyelination of the central nervous system leading to devastating neurologic …

Adrenoleukodystrophy (ALD) is caused by mutations within the X-linked ABCD1 gene,
resulting in the inability to transport acylated very long chain fatty acids (VLCFAs) into the …