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Cholesteryl Ester Storage Disease: Fatal Outcome without Causal Therapy in a Female Patient with the Preventable Sequelae of Progressive Liver Disease after Many Years of Mild Symptoms

Patient: Female, 13 Final Diagnosis: Multiorgan failure as a sequelae of advanced liver disease Symptoms: A lysosomal enzyme defect • abnormal bilirubin level • abnormal lipid profile • cardiovascular complications • Child-Pugh A/B • cholestasis and/or gallbladder dysfunction • chronic and florid fi...

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Detalles Bibliográficos
Autores principales: Canbay, Ali, Müller, Meike N., Philippou, Stathis, Gerken, Guido, Tromm, Andreas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985739/
https://www.ncbi.nlm.nih.gov/pubmed/29773783
http://dx.doi.org/10.12659/AJCR.907755