@article{rodrigues_azevedo_tavares_rocha_silva_2016, 
  title={NON-ALCOHOLIC FATTY LIVER DISEASE ASSOCIATED WITH HYPOBETALIPOPROTEINEMIA: REPORT OF THREE CASES AND A NOVEL MUTATION IN APOB GENE}, 
  volume={Vol 25}, 
  DOI={10.25753/birth&growthmj.v25.i2.9524}, 
  abstractNote={Background: Non-alcoholic fatty liver disease, the leading cause of chronic liver disease in children, is defined by hepatic fat infiltration >5% of hepatocytes, in the absence of excessive alcohol intake, evidence of viral, autoimmune or drug-induced liver disease. Conditions like rare genetic disorders must be considered in the differential diagnosis.
Case Report: Two male brothers, and a non-related girl, all overweight, had liver steatosis. One of the brothers and the girl had elevated transaminases; all three presented with low total cholesterol, low density lipoproteins and very low density lipoproteins cholesterol levels, hypotriglyceridemia and low apolipoprotein B. A liver biopsy performed in the brother with citolysis confirmed steatohepatitis and the molecular study of apolipoprotein B gene showed a novel homozygous mutation (c.9353dup p.Asn3118Lysfs17). Patients with cytolysis lost weight, however liver steatosis persists.
Conclusion: Fatty liver disease might be a consequence of hypobetalipoproteinemia. Evidence is scarce due to low number of reported cases.}, 
  publisher={NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL}, 
  author={Rodrigues, Joana and Azevedo, Ana and Tavares, Susana and Rocha, Cristina and Silva, Ermelinda Santos}, 
  year={2016}, 
  month={Jun}
  }