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Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings
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 evidence of t...
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| Publicado no: | JIMD Rep |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley & Sons, Inc.
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8100391/ https://ncbi.nlm.nih.gov/pubmed/33977023 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12197 |
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