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IMPORTANCE OF LIVER BIOPSY IN THE DIAGNOSIS OF LYSOSOMAL ACID LIPASE DEFICIENCY: A CASE REPORT

OBJECTIVE: To describe a case of cholesteryl ester storage disease (CESD) and discuss the importance of liver biopsy for diagnosis. CASE DESCRIPTION: A female patient, aged two years and ten months, presented with an increased abdominal volume following hepatomegaly for four months. Abdominal ultras...

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Detalles Bibliográficos
Autores principales: Tommaso, Adriana Maria Alves De, Barra, Flávia Fonseca de Carvalho, Hessel, Gabriel, Moreno, Carolina Araújo, Giugliani, Roberto, Escanhoela, Cecília Amélia Fazzio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade de Pediatria de São Paulo 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5849380/
https://www.ncbi.nlm.nih.gov/pubmed/29091130
http://dx.doi.org/10.1590/1984-0462/;2018;36;1;00016