Zellweger-like phenotype in two siblings: a defect in peroxisomal beta-oxidation with elevated very long-chain fatty acids but normal bile acids.
Mandel
H
H
Department of Pediatrics, Rambam Medical Center, Haifa, Israel.
Berant
M
M
Aizin
A
A
Gershony
R
R
Hemmli
S
S
Schutgens
R B
RB
Wanders
R J
RJ
D001647:Bile Acids and Salts / Q000378:metabolism*; D005227:Fatty Acids / Q000097:blood / Q000378:metabolism*; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D015151:Immunoblotting; D007231:Infant, Newborn; D008099:Liver / Q000648:ultrastructure; D008297:Male; D008830:Microbodies / Q000378:metabolism*; D010084:Oxidation-Reduction; D010641:Phenotype; D015211:Zellweger Syndrome / Q000378:metabolism*
D001647:Bile Acids and Salts; D005227:Fatty Acids