Wolman disease presenting with hemophagocytic lymphohistiocytosis syndrome and a novel LIPA gene variant: a case report and review of the literature 

BACKGROUND: Wolman disease is a rare disease caused by the absence of functional liposomal acid lipase due to mutations in LIPA gene. It presents with organomegaly, malabsorption, and adrenal calcifications. The presentations can resemble hemophagocytic lymphohistiocytosis, the life threatening hype...

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Detalles Bibliográficos
Autores principales: Asna Ashari, Kosar, Azari-Yam, Aileen, Shahrooei, Mohammad, Ziaee, Vahid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10463876/
https://www.ncbi.nlm.nih.gov/pubmed/37641143
http://dx.doi.org/10.1186/s13256-023-04116-4

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