Results 161 to 170 of about 4,294 (176)

A case report of Cerebrotendinous Xanthomatosis: Progressive gait difficulties and juvenile cataracts in a 33-year-old male.

Parkinsonism & Related Disorders
Villa-Lopez Marta, Sugumar Tripthi, Suchowersky Oksana   +2 more
semanticscholar   +1 more source

Mitochondrial enzyme deficiency in cerebrotendinous xanthomatosis

Journal of the Neurological Sciences, 1995
Maria TERESA Dotti, Antonio Federico
exaly  

Cerebrotendinous xanthomatosis: pathophysiological study on bone metabolism

Journal of the Neurological Sciences, 1993
Maria TERESA Dotti, Antonio Federico, Ranuccio Nuti   +2 more
exaly  

A novel mutation in the CYP27A1 gene in a family with cerebrotendinous xanthomatosis

International Journal of Neuroscience, 2020
Dongmei Guo, , Yi Tang
exaly  

Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe polyneuropathy

Neuropathology, 2007
Zhaoxia Wang
exaly  

THE ULTRASTRUCTURE OF LENS AND IRIS IN CEREBROTENDINOUS XANTHOMATOSIS

Acta Ophthalmologica, 1977
J H Seland
exaly  

Atypical parkinsonism and cerebrotendinous xanthomatosis: Report of a family with corticobasal syndrome and a literature review

Movement Disorders, 2012
Kailash Bhatia, Maja Kojovic, Mark Edwards   +2 more
exaly  

Cerebrotendinous Xanthomatosis: A Treatable Rare Neurometabolic Disorder

semanticscholar   +1 more source

Pulmonary Lymphangioleiomyomatosis and Cerebrotendinous Xanthomatosis

Chest, 1997
Johan Bulten, Aad Verrips
exaly  

Detection of carriers of cerebrotendinous xanthomatosis

Clinica Chimica Acta, 1986
B G Wolthers, B G Wolthers, B J Koopman
exaly