Associated Papers
Pregnancy in homozygous familial hypercholesterolemia-A case series.
Bláha M et al.
Therapeutic Apheresis and Dialysis : Official Peer-reviewed Journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy, 2022
The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group.
Gazzotti M et al.
Frontiers in Genetics, 2022
35795214 (PubMed )
Supplement: DataSheet1.docx
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
34037665 (PubMed )
Supplement: jamacardiol-e211301-s001.pdf
Evolocumab in the management of children <10 years of age affected by homozygous familial hypercholesterolemia.
Buonuomo PS et al.
Atherosclerosis, 2021
Exome sequencing in suspected monogenic dyslipidemias.
Stitziel NO et al.
Circulation. Cardiovascular Genetics, 2015
The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
Tichý L et al.
Atherosclerosis, 2012
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
Dušková L et al.
Atherosclerosis, 2011
Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent.
Cefalù AB et al.
International Journal of Molecular Medicine, 2006
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