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Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability
Cerebrotendinous xanthomatosis (CTX) is an inborn error of metabolism leading to progressive multisystem disease. Symptoms often begin in the first decade of life with chronic diarrhea, cataracts, developmental delay, intellectual disability, and cerebellar or pyramidal dysfunction. Later manifestat...
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| Pubblicato in: | JIMD Rep |
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| Autori principali: | , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Springer Berlin Heidelberg
2016
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5585103/ https://ncbi.nlm.nih.gov/pubmed/27858369 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_16 |
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