Results 91 to 100 of about 1,415 (153)

Erratum. [PDF]

Mol Syndromol
europepmc   +1 more source

Device-Aided Treatment of Parkinsonism in Cerebrotendinous Xanthomatosis. [PDF]

Mov Disord Clin Pract
Salamon A, Szpisjak L, Klivényi P, Zádori D.   +3 more
europepmc   +1 more source

Cerebrotendinous xanthomatosis: A rare neurodegenerative disorder with characteristic imaging findings. [PDF]

Radiol Case Rep
Khan HG, Raj G, Yadav E, Gupta K, Kulshreshtha D, Ratna, Panda A, Kumar Y.   +7 more
europepmc   +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

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

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

Evaluation of Patients Diagnosed with Inherited Metabolic Diseases in Adulthood. [PDF]

Sisli Etfal Hastan Tip Bul
Gulten ZA, Cetincelik U, Guler A, Guler GB.   +3 more
europepmc   +1 more source

A Rare Case of Bilateral Xanthomatosis of Tendon of Achilles: A Case Report. [PDF]

J Orthop Case Rep
Thakare A, Bhandari H, Patwa B.
europepmc   +1 more source

Cerebrotendinous Xanthomatosis occurs at high frequency in Ashkenazi Jews. [PDF]

Mol Genet Metab
Hanson J, Bonnen PE.
europepmc   +1 more source