Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case repo...
Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports
About this item
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Author / Creator
Publisher
New York: Springer US
Journal title
Language
English
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Publisher
New York: Springer US
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Scope and Contents
Contents
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive inborn error of bile acids synthesis and lipid accumulation caused by a deficiency of the mitochondrial cytochrome P450 sterol 27-hydroxylase enzyme encoded by
CYP27A1
. Pathogenic variants in
CYP27A1
cause elevated cholestanol levels in the body, which leads to a variable c...
Alternative Titles
Full title
Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports
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TN_cdi_proquest_miscellaneous_1823032137
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1823032137
Other Identifiers
ISSN
0885-7490
E-ISSN
1573-7365
DOI
10.1007/s11011-016-9841-y
