Infantile ATP7B-Related End-Stage Liver Disease: An Exceptional Wilson Disease Phenotype From Consecutive Generations

Wilson disease (WD) is a rare autosomal recessive disorder of copper metabolism typically presenting after 3 years of age. We describe a girl presenting with neonatal cholestasis rapidly progressing to end-stage liver disease. She presented hepatosplenomegaly, neurological impairment, Coombs-negativ...

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Detalles Bibliográficos
Autores principales: Nicastro, Emanuele, Iascone, Maria, Di Giorgio, Angelo, Brecelj, Jernej, Petruzzelli, Raffaella, Polishchuk, Roman S., Deheragoda, Maesha, Wagner, Bart E., Sonzogni, Aurelio, Bonanomi, Ezio, D’Antiga, Lorenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins, Inc. 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10191499/
https://www.ncbi.nlm.nih.gov/pubmed/37205945
http://dx.doi.org/10.1097/PG9.0000000000000112

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