Results 131 to 140 of about 7,684 (214)

An Ultra-Rare Disorder: Case Report on Cerebrotendinous Xanthomatosis. [PDF]

Reports (MDPI)
Levkova M, Hachmeriyan M, Grudkova M, Tsalta-Mladenov M, Kaprelyan A.   +4 more
europepmc   +1 more source

Bilateral Achilles Tendon Xanthomas in a 17-Year-Old Female: A Clinicoradiological Case Report. [PDF]

Clin Med Insights Case Rep
Kumar A, Sachdeva R, Verma A.
europepmc   +1 more source

Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series

Neurological Sciences, 2017
D. Zádori, László Szpisjak, L. Madar, V. Varga, B. Csányi, K. Bencsik, I. Balogh, M. Harangi, É. Kereszty, L. Vécsei, P. Klivényi   +10 more
semanticscholar   +1 more source

Cerebrotendinous Xanthomatosis: Novel EEG finding of Fixation-Off Sensitivity. [PDF]

Epilepsy Behav Rep
Mills Z, Houston JT, Thomas A, Shoenmeyer K.   +3 more
europepmc   +1 more source

Systematic Review of Parkinsonism in Cerebrotendinous Xanthomatosis. [PDF]

Neurol Int
Hanson J, Bonnen PE.
europepmc   +1 more source

Characteristic MRI pattern in <i>LMNB1</i>-related autosomal dominant leukodystrophy: a case report. [PDF]

Front Neurosci
Wang YX, Du T, Yang CL, Zhang M, Duan RS.   +4 more
europepmc   +1 more source

Cerebrotendinous xanthomatosis: A complex interplay between a clinically and genetically heterogeneous condition. [PDF]

Eur J Neurol
O'Keefe E, Kiernan M, Huynh W.
europepmc   +1 more source

Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment. [PDF]

Clin Genet
Sultan R, Villa-Lopez M, Hung C, McCabe M, Suchowersky O, Urlacher J, Mercimek-Andrews S.   +6 more
europepmc   +1 more source

Access to orphan drugs in adults with inherited metabolic diseases in Switzerland: a single-center retrospective cohort study. [PDF]

Orphanet J Rare Dis
Antoni G, Kumps C, Berger J, Barman-Aksözen J, Tran C.   +4 more
europepmc   +1 more source