Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis.

Background Cerebrotendinous xanthomatosis (CTX) is a rare disorder due to defective sterol 27-hydroxylase causing a lack of chenodeoxycholic acid (CDCA) production and high plasma cholestanol levels. Objectives Our objective was to review the diagnosis and treatment results in 43 CTX cases. Methods...

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Publicado en:	Journal of Clinical Lipidology Vol. 12; no. 5; pp. 1169 - 1179
Autores principales:	Duell, P. Barton, Salen, Gerald, Eichler, Florian S., DeBarber, Andrea E., Connor, Sonja L., Casaday, Lise, Jayadev, Suman, Kisanuki, Yasushi, Lekprasert, Patamaporn, Malloy, Mary J., Ramdhani, Ritesh A., Ziajka, Paul E., Quinn, Joseph F., Su, Kimmy G., Geller, Andrew S., Diffenderfer, Margaret R., Schaefer, Ernst J.
Formato:	research tables/charts Journal Article
Publicado:	Elsevier B.V. Sep2018
Acceso en línea:	Ver este registro en EBSCOhost