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Successful treatment of infantile oxysterol 7α-hydroxylase deficiency with oral chenodeoxycholic acid
BACKGROUND: Deficiency of oxysterol 7α-hydroxylase, encoded by CYP7B1, is associated with fatal infantile progressive intrahepatic cholestasis and hereditary spastic paraplegia type 5. Most reported patients with CYP7B1 mutations presenting with liver disease in infancy have died of liver failure. H...
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| Publicado no: | BMC Gastroenterol |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8045390/ https://ncbi.nlm.nih.gov/pubmed/33849447 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12876-021-01749-x |
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