Results 131 to 140 of about 1,415 (157)
Some of the next articles are maybe not open access.
[Cerebrotendinous xanthomatosis].
Deutsche medizinische Wochenschrift (1946), 2007A 43-year-old woman had since childhood suffered from progressive dementia. Gait ataxia and mild polyneuropathy were noted in the neurological examination. She also had painful xanthomas of the achilles tendons. A bilateral cataract operation had been performed during adolescence.An elevated concentration of cholestanol and a normal cholesterol level ...
L, Burghaus, W, Liu, W F, Haupt
openaire +1 more source
A novel mutation in the CYP27A1 gene in a family with cerebrotendinous xanthomatosis
International Journal of Neuroscience, 2020Yi Tang, Dongmei Guo, Yi Xing
exaly
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis
Brain, 2000Aad Verrips +2 more
exaly
Cerebrotendinous xanthomatosis: case report with evidence of oxidative stress
Redox Report, 2007Luis F Gonzalez-Cuyar +2 more
exaly
Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis
Journal of Clinical Lipidology, 2018P Barton Duell +2 more
exaly
Cerebrotendinous xanthomatosis: pathophysiological study on bone metabolism
Journal of the Neurological Sciences, 1993Antonio Federico +2 more
exaly