LDL RECEPTOR STUDIES IN CHILDREN WITH HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA (FH): MEASUREMENT OF STEROL SYNTHESIS IN BLOOD LYMPHOCYTES

Acta Paediatrica ◽

10.1111/j.1651-2227.1980.tb07112.x ◽

1980 ◽

Vol 69 (4) ◽

pp. 447-452 ◽

Author(s):

G. E. ANDERSEN ◽

K. B. JOHANSEN

Keyword(s):

Familial Hypercholesterolemia ◽

Ldl Receptor ◽

Sterol Synthesis ◽

Blood Lymphocytes ◽

Heterozygous Familial Hypercholesterolemia

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Duplication of exons 13, 14 and 15 of the LDL-receptor gene in a patient with heterozygous familial hypercholesterolemia

Human Genetics ◽

10.1007/bf00201833 ◽

1991 ◽

Vol 86 (4) ◽

Author(s):

N. Lelli ◽

M. Ghisellini ◽

S. Calandra ◽

A. Gaddi ◽

A. Ciarrocchi ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Ldl Receptor ◽

Heterozygous Familial Hypercholesterolemia

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Coronary Artery Plaque Regression by a PCSK9 Antibody and Rosuvastatin in Double-heterozygous Familial Hypercholesterolemia with an LDL Receptor Mutation and a PCSK9 V4I Mutation

Internal Medicine ◽

10.2169/internalmedicine.1060-18 ◽

2018 ◽

Vol 57 (24) ◽

pp. 3551-3557 ◽

Author(s):

Ryo Shirahama ◽

Takamichi Ono ◽

Suguru Nagamatsu ◽

Daisuke Sueta ◽

Seiji Takashio ◽

...

Keyword(s):

Coronary Artery ◽

Familial Hypercholesterolemia ◽

Ldl Receptor ◽

Coronary Artery Plaque ◽

Heterozygous Familial Hypercholesterolemia ◽

Plaque Regression

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The removal from plasma of chylomicrons and remnants is reduced in heterozygous familial hypercholesterolemia subjects with identified LDL receptor mutations: Study with artificial emulsions

Atherosclerosis ◽

10.1016/j.atherosclerosis.2011.12.033 ◽

2012 ◽

Vol 221 (1) ◽

pp. 268-274 ◽

Author(s):

Marcia M. Carneiro ◽

Marcio H. Miname ◽

Ana C. Gagliardi ◽

Carolina Pereira ◽

Alexandre C. Pereira ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Ldl Receptor ◽

Heterozygous Familial Hypercholesterolemia

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Heterozygous familial hypercholesterolemia: A new point-mutation (1372del2) in the LDL-receptor gene which causes severe hypercholesterolemia

Human Mutation ◽

10.1002/(sici)1098-1004(199910)14:4<357::aid-humu22>3.0.co;2-6 ◽

1999 ◽

Vol 14 (4) ◽

pp. 357-357 ◽

Author(s):

Kurt Widhalm ◽

Christa Iro ◽

Annabell Lindemayr ◽

Helena Schmidt ◽

Gert Kostner

Keyword(s):

Familial Hypercholesterolemia ◽

Point Mutation ◽

Receptor Gene ◽

Ldl Receptor ◽

Heterozygous Familial Hypercholesterolemia

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Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia

Human Mutation ◽

10.1002/(sici)1098-1004(1997)10:2<116::aid-humu4>3.0.co;2-i ◽

1997 ◽

Vol 10 (2) ◽

pp. 116-127 ◽

Author(s):

INM Day ◽

RA Whittall ◽

SD O'Dell ◽

L Haddad ◽

MK Bolla ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Ldl Receptor ◽

Gene Mutations ◽

Heterozygous Familial Hypercholesterolemia

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Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia

Atherosclerosis ◽

10.1016/s0021-9150(99)00158-6 ◽

1999 ◽

Vol 146 (2) ◽

pp. 337-344 ◽

Author(s):

H.K Jensen ◽

L.G Jensen ◽

H Meinertz ◽

P.S Hansen ◽

N Gregersen ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Ldl Receptor ◽

Gene Mutations ◽

Molecular Diagnostic ◽

Diagnostic Strategy ◽

Heterozygous Familial Hypercholesterolemia

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Do mutations in the LDL receptor gene explain variation in LDL-cholesterol concentrations in children with heterozygous familial hypercholesterolemia?

Atherosclerosis ◽

10.1016/0021-9150(94)93818-0 ◽

1994 ◽

Vol 109 (1-2) ◽

pp. 203-204 ◽

Author(s):

A.L. Torres ◽

S. Moorjani ◽

M.C. Vohl ◽

C. Gagne´ ◽

B. Lamarche ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Ldl Cholesterol ◽

Receptor Gene ◽

Ldl Receptor ◽

Heterozygous Familial Hypercholesterolemia

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Comparison of the Genetic Defect with LDL-Receptor Activity in Cultured Cells from Patients With a Clinical Diagnosis of Heterozygous Familial Hypercholesterolemia

Arteriosclerosis Thrombosis and Vascular Biology ◽

10.1161/01.atv.17.11.3092 ◽

1997 ◽

Vol 17 (11) ◽

pp. 3092-3101 ◽

Author(s):

Xi-Ming Sun ◽

Dilip D. Patel ◽

Brian L. Knight ◽

Anne K. Soutar

Keyword(s):

Familial Hypercholesterolemia ◽

Clinical Diagnosis ◽

Cultured Cells ◽

Genetic Defect ◽

Ldl Receptor ◽

Receptor Activity ◽

Heterozygous Familial Hypercholesterolemia

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Effects of apolipoprotein E polymorphism on LDL cholesterol concentrations in children with heterozygous familial hypercholesterolemia due to French Canadian deletion (>15 kb) in the LDL receptor gene

Atherosclerosis ◽

10.1016/0021-9150(94)93817-2 ◽

1994 ◽

Vol 109 (1-2) ◽

pp. 203

Author(s):

S. Moorjani ◽

A.L. Torres ◽

M.C. Vohl ◽

J.P. Despre´s ◽

B. Lamarche ◽

...

Keyword(s):

Apolipoprotein E ◽

Familial Hypercholesterolemia ◽

Ldl Cholesterol ◽

Receptor Gene ◽

Ldl Receptor ◽

French Canadian ◽

Heterozygous Familial Hypercholesterolemia ◽

Apolipoprotein E Polymorphism

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Characterization of point mutations in the LDL receptor gene in Dutch patients with heterozygous familial hypercholesterolemia (FH)

Atherosclerosis ◽

10.1016/0021-9150(94)93460-6 ◽

1994 ◽

Vol 109 (1-2) ◽

pp. 112

Author(s):

P. Lombardi ◽

E. Sijbrands ◽

J.C. Defesche ◽

J.J.P. Kastelein ◽

R.R. Frants ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Point Mutations ◽

Ldl Receptor ◽

Heterozygous Familial Hypercholesterolemia

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