Lack of evidence for reduced plasma apo B48 catabolism in patients with heterozygous familial hypercholesterolemia carrying the same null LDL receptor gene mutation

2004 ◽  
Vol 172 (2) ◽  
pp. 367-373 ◽  
Author(s):  
A Tremblay
Keyword(s):  
Familial Hypercholesterolemia ◽  
Gene Mutation ◽  
Receptor Gene ◽  
Ldl Receptor ◽  
Heterozygous Familial Hypercholesterolemia

Liver transplantation in a subject with familial hypercholesterolemia carrying the homozygous p.W577R LDL-receptor gene mutation

2007 ◽  
Vol 22 (2) ◽  
pp. 180-184 ◽  
Author(s):  
Hartmut H-J. Schmidt ◽  
Uwe J.F. Tietge ◽  
Janine Buettner ◽  
Hannelore Barg-Hock ◽  
Gisela Offner ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Familial Hypercholesterolemia ◽  
Gene Mutation ◽  
Receptor Gene ◽  
Ldl Receptor

scholarly journals Increased production of VLDL apoB-100 in subjects with familial hypercholesterolemia carrying the same null LDL receptor gene mutation

2004 ◽  
Vol 45 (5) ◽  
pp. 866-872 ◽  
Author(s):  
André J. Tremblay ◽  
Benoît Lamarche ◽  
Isabelle L. Ruel ◽  
Jean-Charles Hogue ◽  
Jean Bergeron ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Gene Mutation ◽  
Receptor Gene ◽  
Ldl Receptor
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