Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid
synthesis caused by mutations in the cytochrome P450 CYP27A1 gene that result in …

Most of the known enzyme deficiencies of bile acid synthesis affect both the 27-
hydroxycholesterol and the 7α-hydroxycholesterol pathways; the exceptions are cholesterol …

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disorder
caused by mutations in the CYP27A1 gene, which encodes the mitochondrial enzyme sterol …

There are several hundred single‐gene disorders that we classify as inborn errors of
metabolism. Inborn errors of metabolism are often rare and highly heterogeneous …

Cerebrotendinous Xanthomatosis represents a rare and underdiagnosed inherited
neurometabolic disorder due to homozygous or compound heterozygous variants involving …

In view of the rapidly expanding number of IMD discovered by next generation sequencing,
we propose a simplified classification of IMD that mixes elements from a clinical diagnostic …

Objectives Cerebrotendinous xanthomatosis (CTX) is a rare inherited neurodegenerative
disorder in bile acid synthesis. The natural history of neurological abnormalities in CTX is …

Hyperkinetic movement disorders are characterized by the presence of abnormal
involuntary movements, comprising most notably dystonia, chorea, myoclonus, and tremor …

Background Cerebrotendinous xanthomatosis (CTX) is a rare neurodegenerative disease
related to sterols metabolism. It affects both central and peripheral nervous systems but …

Background Cerebellar ataxias comprise a large group of heterogeneous disorders with
both motor and non‐motor symptoms (NMS). Objective We wanted to ascertain the reported …