Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings
Abstract Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by pathogenic variants in the CYP27A1 gene encoding the mitochondrial enzyme sterol 27‐hydroxylase. Patients with CTX can present with a wide range of symptoms, but most often have evid...
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| Hoofdauteurs: | , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Wiley
2021-05-01
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| Reeks: | JIMD Reports |
| Onderwerpen: | |
| Online toegang: | https://doi.org/10.1002/jmd2.12197 |
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