Results 101 to 110 of about 1,415 (157)

Corrigendum: Frontier and hotspot evolution in cerebrotendinous xanthomatosis: a bibliometric analysis from 1993 to 2023. [PDF]

Front Neurol
Luo F, Ding Y, Zhang S, Diao J, Yuan B.
europepmc   +1 more source

A diagnostic approach to neurocutaneous syndromes. [PDF]

Arq Neuropsiquiatr
Gama SM, Tamanini JVG, Moraes MPM, Silva TYT, Lima FT, Pedroso JL, Barsottini OGP.   +6 more
europepmc   +1 more source

Diagnosing Cerebrotendinous Xanthomatosis in a Middle-Aged Woman With Cervical Dystonia. [PDF]

J Mov Disord
Wang WS, Chiu YP, Tsai MH, Wu SL, Chen YC.   +4 more
europepmc   +1 more source

Cholestanol promotes tau pathology in a mouse model of tauopathy. [PDF]

Cell Mol Life Sci
Yu T, Li Y, Li S, Nie S, Feng H, Zhang Z, Meng L.   +6 more
europepmc   +1 more source

Juvenile Cataract and Chronic Diarrhea: A Single Etiology. [PDF]

Cureus
Risto MI, Sobrosa P, Vilela M, Sousa L.
europepmc   +1 more source

Bilateral Tendoachilles Xanthoma in a Young Female: A Rare Case Report. [PDF]

J Orthop Case Rep
Kumar H, Seth A, Chaudhary M, Saini N.
europepmc   +1 more source

Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes-A Systematic Review. [PDF]

Metabolites
Majewska E, Zdort Z, Ochocka A, Paprocka J.   +3 more
europepmc   +1 more source

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 Rep
Alsaleem BM, Ahmed AB, Alruwaithi MM, Alamery TY, Alrajhi NN.   +4 more
europepmc   +1 more source