Abstract X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder.
The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal …

X-Linked adrenoleukodystrophy (ALD) is a peroxisomal metabolic disorder with a highly
complex clinical presentation. ALD is caused by mutations in the ABCD1 gene, which leads …

X-inactivation is a well-established dosage compensation mechanism ensuring that X-
chromosomal genes are expressed at comparable levels in males and females. Skewed X …

X-linked adrenoleukodystrophy is the most common peroxisomal disorder. The disease is
caused by mutations in the ABCD1 gene that encodes the peroxisomal transporter of very …

X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene
encoding a peroxisomal ABC transporter. In this review, we compare estimates of incidence …

Background X-linked adrenoleukodystrophy (ALD) is a neurometabolic disorder caused by
pathogenic variants in ABCD1 resulting very long-chain fatty acids (VLCFA) accumulation in …

Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous
neurodegenerative motor neuron disorders characterized by progressive age-dependent …

Nearly 20% of genes located on the X chromosome are associated with
neurodevelopmental disorders (NDD) due to their expression and role in brain functioning …

Beckwith-Wiedemann syndrome (BWS) is a clinically and genetically heterogeneous
overgrowth disease. BWS is caused by (epi) genetic defects at the 11p15 chromosomal …

Myasthenia gravis (MG) is a neuromuscular autoimmune disease characterized by
prevalence in young women (3: 1). Several mechanisms proposed as explanations for …