Siblings with hepatosplenomegaly and lipoprotein lipase deficiency.
Schneider
Jochen G
JG
Department of Internal Medicine I, Heidelberg University, 69115, Heidelberg, Germany.
Schaefer
Susanne
S
Lettgen
Bernhard
B
Keiper
Tanja
T
Nawroth
Peter P
PP
Dugi
Klaus A
KA
D002675:Child, Preschool; D002914:Chylomicrons / Q000097:blood; D004252:DNA Mutational Analysis; D005260:Female; D006580:Genetic Carrier Screening; D006529:Hepatomegaly / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D006953:Hyperlipoproteinemia Type IV / Q000201:enzymology / Q000235:genetics*; D007231:Infant, Newborn; D008071:Lipoprotein Lipase / Q000172:deficiency* / Q000235:genetics; D016133:Polymerase Chain Reaction; D013163:Splenomegaly / Q000201:enzymology / Q000235:genetics*
D002914:Chylomicrons; D008071:Lipoprotein Lipase