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Diagnosis and treatment of an inborn error of bile acid synthesis type 4: A case report
BACKGROUND: Inborn error of bile acid synthesis type 4 is a peroxisomal disease with impaired bile acid synthesis caused by a-methylacyl-CoA racemase (AMACR) gene mutation. The disease is usually found in children with mild to severe liver disease, cholestasis and poor fat-soluble vitamin absorption...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Baishideng Publishing Group Inc
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8462232/ https://www.ncbi.nlm.nih.gov/pubmed/34621847 http://dx.doi.org/10.12998/wjcc.v9.i26.7923 |