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...

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Detalles Bibliográficos
Autores principales: Youssef, Mariam, Mascia, Katherine L., McGuire, Brendan, Patel, Chirag R., Al Diffalha, Sameer, Dhall, Deepti, Lee, Goo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2023
Materias:
Case Report
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

Internet

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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