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1 s a gene therapy vector for hemophilia A and familial hypercholesterolemia.
2 fer protein, in six patients with homozygous familial hypercholesterolemia.
3 re endothelial function in a rabbit model of familial hypercholesterolemia.
4 ity lipoprotein receptor, is associated with familial hypercholesterolemia.
5 of this residue in human LDL receptor cause familial hypercholesterolemia.
6 an mutations, those for torsion dystonia and familial hypercholesterolemia.
7 ogression and remodeling in a mouse model of familial hypercholesterolemia.
8 del highly related to the human condition of familial hypercholesterolemia.
9 400 LDLR mutations that are associated with familial hypercholesterolemia.
10 -iPs measured were elevated in patients with familial hypercholesterolemia.
11 bits, which are a model for human homozygous familial hypercholesterolemia.
12 centage of adolescents and young adults with familial hypercholesterolemia.
13 ional LDL receptor genes, an animal model of familial hypercholesterolemia.
14 suggest that L-arginine may be beneficial in familial hypercholesterolemia.
15 thout comorbidities or who have heterozygous familial hypercholesterolemia.
16 rents who had positive screening results for familial hypercholesterolemia.
17 knock-down of the APOB gene as treatment for familial hypercholesterolemia.
18 oB)-ASO is an FDA approved drug for treating familial hypercholesterolemia.
19 been approved as a treatment for homozygous familial hypercholesterolemia.
20 in the pathophysiology of autosomal-dominant familial hypercholesterolemia.
21 ; P=1.7x10(-17)), but did not have classical familial hypercholesterolemia.
22 ubjects with clinically diagnosed homozygous familial hypercholesterolemia.
23 ling pilot study in patients with homozygous familial hypercholesterolemia.
24 de for treatment of patients with homozygous familial hypercholesterolemia.
25 CSK9) reduce LDL cholesterol in heterozygous familial hypercholesterolemia.
26 ations of the LDL receptor gene as models of familial hypercholesterolemia.
27 e issues involved in identifying people with familial hypercholesterolemia.
28 ldren who had positive screening results for familial hypercholesterolemia (0.3% of the 10,095 childr
29 ldren who had positive screening results for familial hypercholesterolemia (0.4% of the 10,095 childr
30 A number of patients, however, suffer from familial hypercholesterolemia 4 (FH4), defined as ADH in
31 ease (85%), susceptibility to cancers (85%), familial hypercholesterolemia (84%), alcoholism (69%), a
32 ensity lipoprotein (LDL) receptor gene cause familial hypercholesterolemia, a human disease character
33 in fibroblasts from homozygous patients with familial hypercholesterolemia accumulated 2-4-fold more
34 negative LDL (LDL(-)), which is increased in familial hypercholesterolemia and diabetes, is implicate
35 lipoprotein receptor (LDLR) mutations cause familial hypercholesterolemia and early atherosclerosis.
37 Already in use for confirmatory testing of familial hypercholesterolemia and for cascade screening
38 d by the FDA for the treatment of homozygous familial hypercholesterolemia and over 35 second generat
40 d either as drugs (e.g., to treat homozygous familial hypercholesterolemia and spinal muscular atroph
41 titution of a 3-year-old boy with homozygous familial hypercholesterolemia and unstable coronary arte
42 ied as having positive screening results for familial hypercholesterolemia and were consequently at h
43 ents with LDL receptor defects (heterozygous familial hypercholesterolemia) and non-familial hypercho
44 review focused on screening for heterozygous familial hypercholesterolemia, and 1 review focused on s
45 rther detail (alpha1-antitrypsin deficiency, familial hypercholesterolemia, and glycogen storage dise
46 pe that is clinically indistinguishable from familial hypercholesterolemia, and mutations in this gen
47 WHHL) rabbit, an animal model for homozygous familial hypercholesterolemia, and we have investigated
48 st methods for identification of people with familial hypercholesterolemia are needed to ensure that
49 Twenty-nine youths 11 to 23 years old with familial hypercholesterolemia (average LDL cholesterol,
50 ygous familial hypercholesterolemia) and non-familial hypercholesterolemia, background statin or diet
51 ic categories of heterozygous and homozygous familial hypercholesterolemia, based on clinical criteri
53 plant for definitive treatment of homozygous familial hypercholesterolemia but died of noncardiac com
56 m was to use the SAFEHEART registry (Spanish Familial Hypercholesterolemia Cohort Study) to define ke
57 H relatives recruited for SAFEHEART (Spanish Familial Hypercholesterolemia Cohort Study), a long-term
58 Asymptomatic patients with he-FH and 131 non-familial hypercholesterolemia controls underwent CT comp
60 he adjusted prevalence of type 2 diabetes in familial hypercholesterolemia, determined using multivar
63 n treatment, many patients with heterozygous familial hypercholesterolemia do not reach desired low-d
64 cally apparent xanthomas in 24 patients with familial hypercholesterolemia (FH) (six men, 18 women; m
69 ages (MDMs) were isolated from patients with familial hypercholesterolemia (FH) during statin therapy
70 osclerotic cardiovascular disease (ASCVD) in familial hypercholesterolemia (FH) have been described,
71 n and treatment patterns among patients with familial hypercholesterolemia (FH) in the United States
80 wo variants of LR6, identified originally as familial hypercholesterolemia (FH) mutations, have been
81 sity lipoprotein cholesterol in heterozygous familial hypercholesterolemia (FH) or atherosclerotic ca
82 disease (CHD) in patients with heterozygous familial hypercholesterolemia (FH) or familial defective
83 ial artery were examined in 15 children with familial hypercholesterolemia (FH) or the phenotype of f
85 This issue was recently addressed in a large familial hypercholesterolemia (FH) screening study, whic
89 f the LDL receptor cause the genetic disease familial hypercholesterolemia (FH), and several of these
90 om loss of LDLR activity: autosomal dominant familial hypercholesterolemia (FH), caused by mutations
91 Mutations in the LDL receptor (LDLR) cause familial hypercholesterolemia (FH), the most severe form
99 ion in the LDLR EGF-A domain associated with familial hypercholesterolemia, H306Y, results in increas
109 atocyte-like cells generated from homozygous familial hypercholesterolemia (hoFH) iPSCs to identify d
111 r, significantly reduces LDL-C in homozygous familial hypercholesterolemia (hoFH) when administered c
113 in Children and Adolescents With Homozygous Familial Hypercholesterolemia [HYDRA]; NCT02226198).
114 ered to have a positive screening result for familial hypercholesterolemia if he or she had the same
115 dered to have positive screening results for familial hypercholesterolemia if their cholesterol level
116 d from all molecular diagnoses performed for familial hypercholesterolemia in Spain between 1996 and
117 s (n = 63,320) who underwent DNA testing for familial hypercholesterolemia in the national Dutch scre
118 strategies for identification of people with familial hypercholesterolemia in various countries and r
119 ry human fibroblasts from an individual with familial hypercholesterolemia; in both cases, Lp(a) inte
120 y lipoprotein receptor (LDLR) and homozygous familial hypercholesterolemia is a candidate for gene th
131 evaluated using a mouse model of homozygous familial hypercholesterolemia lacking endogenous LDLR an
132 by LPS and hyperlipidemia and patients with familial hypercholesterolemia less frequently develop di
133 95 children, including 32 children who had a familial hypercholesterolemia mutation and 8 who did not
134 erval [CI], 0.2 to 0.4), including 20 with a familial hypercholesterolemia mutation and 8 with a repe
135 rol level was elevated and they had either a familial hypercholesterolemia mutation or a repeat eleva
137 o measure cholesterol levels and to test for familial hypercholesterolemia mutations in 10,095 childr
138 Deleteriousness and nondeleteriousness of familial hypercholesterolemia mutations were based on li
139 d post-apheresis plasma from 6 patients with familial hypercholesterolemia on 3 consecutive treatment
140 L receptor-negative or -defective homozygous familial hypercholesterolemia on stable drug therapy wer
141 novel class of medications for patients with familial hypercholesterolemia or clinical atheroscleroti
142 iliac arteries in patients with heterozygous familial hypercholesterolemia or familial combined hyper
143 ing, asymptomatic patients with heterozygous familial hypercholesterolemia or familial combined hyper
144 ay develop in children because of homozygous familial hypercholesterolemia or other underlying condit
145 subjects, including those with heterozygous familial hypercholesterolemia or taking the highest dose
146 olesterol levels in patients with homozygous familial hypercholesterolemia, owing to reduced producti
147 e prevalence of type 2 diabetes was 1.75% in familial hypercholesterolemia patients (n = 440/25,137)
148 stantial reductions in LDL-C in heterozygous familial hypercholesterolemia patients despite intensive
149 th a PCSK9 monoclonal antibody in homozygous familial hypercholesterolemia patients with defective LD
151 uch as phenylketonuria, hyperbilirubinemias, familial hypercholesterolemia, primary oxalosis, and fac
152 enic mice; healthy humans; and patients with familial hypercholesterolemia, stable CVD, and acute myo
154 h child with a positive screening result for familial hypercholesterolemia was considered to have a p
155 lence of type 2 diabetes among patients with familial hypercholesterolemia was significantly lower th
156 otein receptor (LDLR) are a primary cause of familial hypercholesterolemia, we evaluated whether LDLR
157 ose statins and 6 subjects with heterozygous familial hypercholesterolemia were randomized to SC AMG
158 LDL levels than do patients with homozygous familial hypercholesterolemia who have no functional LDL
159 tiple-dose trial in adults with heterozygous familial hypercholesterolemia who were receiving atorvas
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