Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood
Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
Cerebrotendinous xanthomatosis (CTX) is among the few inherited neurometabolic disorders amenable to specific treatment. It is easily diagnosed using plasma cholestanol. We wished to delineate the natural history of the most common neurological and non-neurological symptoms in thirteen patients with CTX. Diarrhea almost always developed within the...
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Full title
Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4833925
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4833925
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-016-0419-x
