Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability
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Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2016_16
Reference20 articles.
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2. Barkhof F, Verrips A, Wesseling P et al (2000) Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings. Radiology 217:869–876. pubs.rsna.org
3. Berginer VM, Gross B, Morad K et al (2009) Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat. Pediatrics 123:143–147
4. Berginer VM, Salen G, Patel SB (2015) Cerebrotendinous xanthomatosis. In: Rosenberg RN, Pascual JM (eds) Rosenberg’s molecular and genetic basis of neurological and psychiatric disease. Academic Press, Elsevier, London, pp. 589–598
5. Clayton PT, Verrips A, Sistermans E et al (2002) Mutations in the sterol 27-hydoxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis. J Inherit Metab Dis 25:501–513
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