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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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Detalles Bibliográficos
Autores principales:	Tang, Yun-Ping, Gong, Jing-Yu, Setchell, Kenneth D. R., Zhang, Wujuan, Zhao, Jing, Wang, Jian-She
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8045390/ https://www.ncbi.nlm.nih.gov/pubmed/33849447 http://dx.doi.org/10.1186/s12876-021-01749-x

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