15-Month-old infant with failure to thrive, hepatomegaly, increased liver enzymes, hypoproteinemia, and seizures

Am J Med Genet A. 2003 Feb 1;116A(4):391-8. doi: 10.1002/ajmg.a.10071.
No abstract available

Publication types

  • Case Reports
  • Clinical Conference

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / physiopathology*
  • Autopsy
  • Female
  • Hepatomegaly / etiology*
  • Hepatomegaly / genetics
  • Hepatomegaly / pathology
  • Humans
  • Hypoproteinemia / etiology*
  • Infant
  • Kidney / abnormalities
  • Liver / enzymology*
  • Liver / pathology
  • Seizures / etiology*