Results 131 to 140 of about 3,665 (213)

Neurodegeneratív proteinopátiák klinikopatológiai elemzése [PDF]

, 2017
Kapás, István
core   +1 more source

Xantomatosis cerebrotendinosa en España. Mutaciones, aspectos clínicos y terapéuticos [PDF]

, 2009
La presente serie es la única en nuestro país sobre esta enfermedad de la que tengamos constancia. La prevalencia encontrada en esta serie, sugiere que este trastorno posiblemente sea la heredoataxia recesiva más frecuente después de la enfermedad de ...
Pilo de la Fuente, Belén
core   +2 more sources

Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis [PDF]

, 2018
P. Barton Duell, Gerald Salen, Florian Eichler, Andrea E. DeBarber, Sonja L. Connor, Lise Casaday, Suman Jayadev, Yasushi Kisanuki, Patamaporn Lekprasert, Mary J. Malloy, Ritesh Ramdhani, Paul Ziajka, Joseph F. Quinn, Kimmy Su, Andrew S. Geller, Margaret R. Diffenderfer, Ernst J. Schaefer   +16 more
openalex   +1 more source

Prominent Tendon Xanthomas and Abdominal Aortic Aneurysm Associated with Cerebrotendinous Xanthomatosis Identified Using Whole Exome Sequencing

, 2017
Hayato Tada, Syota Inaba, Daria Pozharitckaia, Masa‐aki Kawashiri   +3 more
openalex   +2 more sources

Role of the 26-hydroxylase in the biosynthesis of bile acids in the normal state and in cerebrotendinous xanthomatosis. An in vivo study. [PDF]

, 1983
Ingemar Björkhem, O. Fausa, Gunnar Hopen, H Oftebro, Jan I. Pedersen, Steinar Skrede   +5 more
openalex   +1 more source

Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia [PDF]

, 2014
Alessia, Sapio, Andrea, Montella, Antonio, Federico, Giachino, Daniela Francesca, Gian Nicola Gallus,, Giuseppe, Mura, Lucia, Ulgheri, Mandrile, Giorgia, Maria Alessandra Sotgiu,, Maria Teresa Dotti,   +9 more
core   +2 more sources

Cerebrotendinous xanthomatosis presenting with schizophrenia-like disorder: A case report. [PDF]

World J Psychiatry, 2023
Ling CX, Gao SZ, Li RD, Gao SQ, Zhou Y, Xu XJ.   +5 more
europepmc   +1 more source

Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis

, 2012
Paola Caroppo, Federico D’Agata, Andrea Mignarri, Maria Laura Stromillo, Maria Teresa Dotti, Tiziana Mongini   +5 more
openalex   +2 more sources

Characterization of Postprandial Bile Acid Profiles and Glucose Metabolism in Cerebrotendinous Xanthomatosis. [PDF]

Nutrients, 2023
Majait S, Meessen ECE, Vaz FM, Kemper EM, Nierop SV, Olde Damink SW, Schaap FG, Romijn JA, Nieuwdorp M, Verrips A, Knop FK, Soeters MR.   +11 more
europepmc   +1 more source

Pathophysiology and Treatment of Lipid Abnormalities in Cerebrotendinous Xanthomatosis: An Integrative Review. [PDF]

Brain Sci, 2023
Ribeiro RM, Vasconcelos SC, Lima PLGSB, Coelho EF, Oliveira AMN, Gomes EABM, Mota LA, Radtke LS, Carvalho MDS, Araújo DABS, Pinheiro MSN, Gama VCV, Júnior RMM, Braga Neto P, Nóbrega PR.   +14 more
europepmc   +1 more source