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for CTX patients, their families, and medical professionals
who treat and study this rare disease.
Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment
DeBarber AE, Kalfon L, Fedida A, Fleisher Sheffer V, Ben Haroush S, Chasnyk N, Shuster Biton E, Mandel H, Jeffries K, Shinwell ES, Falik-Zaccai TC. Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment. J Lipid Res. 2018 Nov;59(11):2214-2222. doi: 10.1194/jlr.M087999. Epub 2018 Aug 22. PMID: 30135217; PMCID: PMC6210902.
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Latest CTX Articles
- Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes November 18, 2021
- Cerebrotendinous Xanthomatosis September 13, 2021
- Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX) August 27, 2021