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CALFAN (Low γ-Glutamyl Transpeptidase (GGT) Cholestasis, Acute Liver Failure, and Neurodegeneration) Syndrome: A Case Report with 3-Year Follow-Up after Liver Transplantation in Early Adulthood
CALFAN syndrome is an extremely rare disease consisting of recurrent pediatric acute liver failure (PALF), neurodegenerative diseases, and skeletal abnormalities associated with SCYL1 gene mutation. To date, three of 18 patients reported underwent liver transplantation in infancy and early childhood...
Autores principales: | Youssef, Mariam, Mascia, Katherine L., McGuire, Brendan, Patel, Chirag R., Al Diffalha, Sameer, Dhall, Deepti, Lee, Goo |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10406563/ https://www.ncbi.nlm.nih.gov/pubmed/37554250 http://dx.doi.org/10.1155/2023/3010131 |
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