15-Month-old infant with failure to thrive, hepatomegaly, increased liver enzymes, hypoproteinemia, and seizures.
Barness
Lewis A
LA
Department of Pediatrics, University of South Florida College of Medicine, Tampa, Florida 33606, USA.
Patterson
Robert F
RF
Barness
Enid Gilbert
EG
Nora
Frederick E
FE
Chamyan
Gabriel
G
Lacson
Atilano
A
Pomerance
Herbert H
HH
D000015:Abnormalities, Multiple / Q000235:genetics / Q000503:physiopathology*; D001344:Autopsy; D005260:Female; D006529:Hepatomegaly / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D006801:Humans; D007019:Hypoproteinemia / Q000209:etiology*; D007223:Infant; D007668:Kidney / Q000002:abnormalities; D008099:Liver / Q000201:enzymology* / Q000473:pathology; D012640:Seizures / Q000209:etiology*