Diagnosis, treatment, and follow-up of a case of Wolman disease with hemophagocytic lymphohistiocytosis

Wolman Disease (WD) is a severe multi-system metabolic disease due to lysosomal acid lipase (LAL) deficiency. We report on a WD infant who developed an unusual hemophagocytic lymphohistiocytosis (HLH) phenotype related to WD treated with sebelipase alfa. A male baby came to our attention at six mont...

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Detalles Bibliográficos
Autores principales: Baronio, Federico, Conti, Francesca, Miniaci, Angela, Carfagnini, Filomena, Di Natale, Valeria, Di Donato, Giulio, Testi, Matthias, Totaro, Camilla, De Fanti, Alessandro, Boenzi, Sara, Dionisi-Vici, Carlo, Esposito, Susanna, Pession, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8856920/
https://www.ncbi.nlm.nih.gov/pubmed/35242567
http://dx.doi.org/10.1016/j.ymgmr.2021.100833

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