Early diagnosis and follow-up of cerebrotendinous xanthomatosis in infant siblings presenting with congenital diarrhea: A case study from Saudi Arabia. [PDF]
Mol Genet Metab RepAlsaleem BM +4 more
europepmc +1 more source
Living with Cerebrotendinous Xanthomatosis: Patient, Caregiver, and Expert Perspectives. [PDF]
Adv TherSteiner RD +7 more
europepmc +1 more source
The 20-Year Diagnostic Odyssey of a Milder Form of Cerebrotendinous Xanthomatosis. [PDF]
JCEM Case RepGuay SP +5 more
europepmc +1 more source
A double CYP27A1 gene mutation in spinal cerebrotendinous xanthomatosis in a patient presenting with spastic gait: a case report. [PDF]
J Med Case RepMin JH, Kim YS, Son MJ, Joo IS.
europepmc +1 more source
Clinical and Imaging Profile of Patients with Cerebrotendinous Xanthomatosis - a Video Case Series from India. [PDF]
Tremor Other Hyperkinet Mov (N Y)Katragadda P +5 more
europepmc +1 more source
Cerebrotendinous xanthomatosis: some clinical, radiological, genetic and pathophysiological aspects
, 2000 Aad Verrips
openalex +1 more source
[Cerebrotendinous xanthomatosis, a rare, severe, but treatable metabolic disorder].
, 2013 Stéphanie Delstanche +5 more
openalex +1 more source
Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene. [PDF]
Orphanet J Rare DisKöroğlu M +6 more
europepmc +1 more source