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1 l as genetic causes of dyslipidemia (such as familial hypercholesterolemia).
2 been approved as a treatment for homozygous familial hypercholesterolemia.
3 in the pathophysiology of autosomal-dominant familial hypercholesterolemia.
4 ; P=1.7x10(-17)), but did not have classical familial hypercholesterolemia.
5 n LDL cholesterol levels in all genotypes of familial hypercholesterolemia.
6 ubjects with clinically diagnosed homozygous familial hypercholesterolemia.
7 ling pilot study in patients with homozygous familial hypercholesterolemia.
8 de for treatment of patients with homozygous familial hypercholesterolemia.
9 CSK9) reduce LDL cholesterol in heterozygous familial hypercholesterolemia.
10 ations of the LDL receptor gene as models of familial hypercholesterolemia.
11 e issues involved in identifying people with familial hypercholesterolemia.
12 umab in pediatric patients with heterozygous familial hypercholesterolemia.
13 s a gene therapy vector for hemophilia A and familial hypercholesterolemia.
14 fer protein, in six patients with homozygous familial hypercholesterolemia.
15 cular disorders, and lipid disorders such as familial hypercholesterolemia.
16 re endothelial function in a rabbit model of familial hypercholesterolemia.
17 ity lipoprotein receptor, is associated with familial hypercholesterolemia.
18 of this residue in human LDL receptor cause familial hypercholesterolemia.
19 an mutations, those for torsion dystonia and familial hypercholesterolemia.
20 ogression and remodeling in a mouse model of familial hypercholesterolemia.
21 del highly related to the human condition of familial hypercholesterolemia.
22 400 LDLR mutations that are associated with familial hypercholesterolemia.
23 -iPs measured were elevated in patients with familial hypercholesterolemia.
24 bits, which are a model for human homozygous familial hypercholesterolemia.
25 centage of adolescents and young adults with familial hypercholesterolemia.
26 ional LDL receptor genes, an animal model of familial hypercholesterolemia.
27 suggest that L-arginine may be beneficial in familial hypercholesterolemia.
28 as it was 180 mg/dL (389 nmol/L) for genetic familial hypercholesterolemia.
29 e (ASCVD), risk equivalents, or heterozygous familial hypercholesterolemia.
30 r treatment with alirocumab in patients with familial hypercholesterolemia.
31 eening and detection of individuals who have familial hypercholesterolemia.
32 ising genes related to inherited cancers and familial hypercholesterolemia.
33 ns and ezetimibe in patients with homozygous familial hypercholesterolemia.
34 ity as well as those afflicted by homozygous familial hypercholesterolemia.
35 s with a rare, monogenic mutation related to familial hypercholesterolemia.
36 oB)-ASO is an FDA approved drug for treating familial hypercholesterolemia.
37 otential benefit in patients with homozygous familial hypercholesterolemia.
38 thout comorbidities or who have heterozygous familial hypercholesterolemia.
39 nthesis of PCSK9 in adults with heterozygous familial hypercholesterolemia.
40 rents who had positive screening results for familial hypercholesterolemia.
41 knock-down of the APOB gene as treatment for familial hypercholesterolemia.
42 ldren who had positive screening results for familial hypercholesterolemia (0.3% of the 10,095 childr
43 ldren who had positive screening results for familial hypercholesterolemia (0.4% of the 10,095 childr
44 A number of patients, however, suffer from familial hypercholesterolemia 4 (FH4), defined as ADH in
45 ease (85%), susceptibility to cancers (85%), familial hypercholesterolemia (84%), alcoholism (69%), a
46 he original cohort, 184 of 214 patients with familial hypercholesterolemia (86%) and 77 of 95 sibling
47 ensity lipoprotein (LDL) receptor gene cause familial hypercholesterolemia, a human disease character
48 in fibroblasts from homozygous patients with familial hypercholesterolemia accumulated 2-4-fold more
49 ptor activity, such as those with homozygous familial hypercholesterolemia, an alternate strategy is
50 riod was 0.0056 mm per year in patients with familial hypercholesterolemia and 0.0057 mm per year in
51 clinical trial in patients with heterozygous familial hypercholesterolemia and atherosclerotic cardio
52 negative LDL (LDL(-)), which is increased in familial hypercholesterolemia and diabetes, is implicate
53 lipoprotein receptor (LDLR) mutations cause familial hypercholesterolemia and early atherosclerosis.
54 icenter study in 56 patients with homozygous familial hypercholesterolemia and elevated LDL-C levels
56 Already in use for confirmatory testing of familial hypercholesterolemia and for cascade screening
58 importance of monogenic mutations related to familial hypercholesterolemia and of high polygenic scor
59 d by the FDA for the treatment of homozygous familial hypercholesterolemia and over 35 second generat
61 d either as drugs (e.g., to treat homozygous familial hypercholesterolemia and spinal muscular atroph
62 titution of a 3-year-old boy with homozygous familial hypercholesterolemia and unstable coronary arte
63 ied as having positive screening results for familial hypercholesterolemia and were consequently at h
64 ents with LDL receptor defects (heterozygous familial hypercholesterolemia) and non-familial hypercho
65 t MI we identified FYTTD1 (down-regulated in familial hypercholesterolemia) and PINK1 (linked to card
66 review focused on screening for heterozygous familial hypercholesterolemia, and 1 review focused on s
67 rther detail (alpha1-antitrypsin deficiency, familial hypercholesterolemia, and glycogen storage dise
68 pe that is clinically indistinguishable from familial hypercholesterolemia, and mutations in this gen
69 WHHL) rabbit, an animal model for homozygous familial hypercholesterolemia, and we have investigated
70 st methods for identification of people with familial hypercholesterolemia are needed to ensure that
72 t to lower LDL-C in adults with heterozygous familial hypercholesterolemia, ASCVD, or ASCVD risk equi
74 lerotic cardiovascular disease, diabetes, or familial hypercholesterolemia at 43 sites in Asia, Europ
75 Twenty-nine youths 11 to 23 years old with familial hypercholesterolemia (average LDL cholesterol,
76 ygous familial hypercholesterolemia) and non-familial hypercholesterolemia, background statin or diet
77 ic categories of heterozygous and homozygous familial hypercholesterolemia, based on clinical criteri
79 plant for definitive treatment of homozygous familial hypercholesterolemia but died of noncardiac com
81 lemia in the molecular routine workflow of a familial hypercholesterolemia cascade screening program
85 m was to use the SAFEHEART registry (Spanish Familial Hypercholesterolemia Cohort Study) to define ke
86 5 index cases enrolled in SAFEHEART (Spanish Familial Hypercholesterolemia Cohort Study) were tested
87 H relatives recruited for SAFEHEART (Spanish Familial Hypercholesterolemia Cohort Study), a long-term
88 Asymptomatic patients with he-FH and 131 non-familial hypercholesterolemia controls underwent CT comp
90 ed the impact of the founder French-Canadian familial hypercholesterolemia deletion ( LDLR delta >15
91 uce LDL-C levels in patients with homozygous familial hypercholesterolemia despite substantial loweri
92 he adjusted prevalence of type 2 diabetes in familial hypercholesterolemia, determined using multivar
93 primary severe hypercholesterolemia such as familial hypercholesterolemia, diabetes with diabetes-sp
96 the potential of this resource to accelerate familial hypercholesterolemia diagnosis and improve pati
97 n treatment, many patients with heterozygous familial hypercholesterolemia do not reach desired low-d
98 netically elevated plasma lipoprotein(a) and familial hypercholesterolemia each result in premature a
99 ses (low-density-lipoprotein cholesterol for familial hypercholesterolemia, electrocardiographic QTc
100 sorders of lipoprotein metabolism, including familial hypercholesterolemia, elevated lipoprotein(a),
101 this trial involving pediatric patients with familial hypercholesterolemia, evolocumab reduced the LD
102 cally apparent xanthomas in 24 patients with familial hypercholesterolemia (FH) (six men, 18 women; m
104 ited data on the prevalence and treatment of familial hypercholesterolemia (FH) among U.S. adults who
105 -of-function PCSK9 mutations associated with familial hypercholesterolemia (FH) and clustered at the
110 ilarly, CD8+ T cells from humans affected by familial hypercholesterolemia (FH) carrying a mutation o
111 ages (MDMs) were isolated from patients with familial hypercholesterolemia (FH) during statin therapy
113 fter disclosure of genomic risk variants for familial hypercholesterolemia (FH) from a population gen
116 osclerotic cardiovascular disease (ASCVD) in familial hypercholesterolemia (FH) have been described,
121 n and treatment patterns among patients with familial hypercholesterolemia (FH) in the United States
140 wo variants of LR6, identified originally as familial hypercholesterolemia (FH) mutations, have been
141 sity lipoprotein cholesterol in heterozygous familial hypercholesterolemia (FH) or atherosclerotic ca
142 disease (CHD) in patients with heterozygous familial hypercholesterolemia (FH) or familial defective
143 ial artery were examined in 15 children with familial hypercholesterolemia (FH) or the phenotype of f
146 This issue was recently addressed in a large familial hypercholesterolemia (FH) screening study, whic
148 ssed prevalence and penetrance of pathogenic familial hypercholesterolemia (FH) variants, their assoc
149 rapy is a treatment option for patients with familial hypercholesterolemia (FH) who are unable to rea
152 f the LDL receptor cause the genetic disease familial hypercholesterolemia (FH), and several of these
153 om loss of LDLR activity: autosomal dominant familial hypercholesterolemia (FH), caused by mutations
154 a long-term history of active screening for familial hypercholesterolemia (FH), enabling health-econ
155 rticipants were separated into 7 groups with familial hypercholesterolemia (FH), predicted loss of fu
156 Mutations in the LDL receptor (LDLR) cause familial hypercholesterolemia (FH), the most severe form
157 arian cancer (HBOC), Lynch syndrome (LS) and familial hypercholesterolemia (FH)-have been termed the
169 wo Mendelian diseases affecting cholesterol: familial hypercholesterolemia (FH; LDLR and APOB) and fa
170 yzed 59 plasma samples from individuals with familial hypercholesterolemia from a clinical cohort stu
172 terolemia index cases, 260 were negative for familial hypercholesterolemia genes and were sequenced f
173 d pathogenic/likely pathogenic variants in 3 familial hypercholesterolemia genes, with CAD severity.
174 eatures of sitosterolemia participating in a familial hypercholesterolemia genetic cascade screening
176 ion in the LDLR EGF-A domain associated with familial hypercholesterolemia, H306Y, results in increas
179 , on coronary plaque burden in patients with familial hypercholesterolemia has not been addressed.
182 d analysis of 354 patients with heterozygous familial hypercholesterolemia (HeFH) and 2,530 patients
183 Many pediatric patients with heterozygous familial hypercholesterolemia (HeFH) cannot reach recomm
190 sterol (LDL-C) in Subjects With Heterozygous Familial Hypercholesterolemia (HeFH)]), atherosclerotic
191 ce of disease in tier 1 genomic conditions - familial hypercholesterolemia, hereditary breast and ova
193 atocyte-like cells generated from homozygous familial hypercholesterolemia (hoFH) iPSCs to identify d
199 r, significantly reduces LDL-C in homozygous familial hypercholesterolemia (hoFH) when administered c
201 in Children and Adolescents With Homozygous Familial Hypercholesterolemia [HYDRA]; NCT02226198).
202 ered to have a positive screening result for familial hypercholesterolemia if he or she had the same
203 dered to have positive screening results for familial hypercholesterolemia if their cholesterol level
204 dy) with determination of lipoprotein(a) and familial hypercholesterolemia in 69,644 individuals foll
205 d from all molecular diagnoses performed for familial hypercholesterolemia in Spain between 1996 and
206 s (n = 63,320) who underwent DNA testing for familial hypercholesterolemia in the national Dutch scre
207 strategies for identification of people with familial hypercholesterolemia in various countries and r
208 ry human fibroblasts from an individual with familial hypercholesterolemia; in both cases, Lp(a) inte
212 y lipoprotein receptor (LDLR) and homozygous familial hypercholesterolemia is a candidate for gene th
228 evaluated using a mouse model of homozygous familial hypercholesterolemia lacking endogenous LDLR an
229 by LPS and hyperlipidemia and patients with familial hypercholesterolemia less frequently develop di
230 95 children, including 32 children who had a familial hypercholesterolemia mutation and 8 who did not
231 erval [CI], 0.2 to 0.4), including 20 with a familial hypercholesterolemia mutation and 8 with a repe
232 rol level was elevated and they had either a familial hypercholesterolemia mutation or a repeat eleva
234 in cholesterol was 206 mg/dL in those with a familial hypercholesterolemia mutation, 132 mg/dL in tho
237 o measure cholesterol levels and to test for familial hypercholesterolemia mutations in 10,095 childr
238 Deleteriousness and nondeleteriousness of familial hypercholesterolemia mutations were based on li
241 d post-apheresis plasma from 6 patients with familial hypercholesterolemia on 3 consecutive treatment
242 erol in clinically and genetically diagnosed familial hypercholesterolemia on risk of myocardial infa
243 L receptor-negative or -defective homozygous familial hypercholesterolemia on stable drug therapy wer
244 with both elevated lipoprotein(a) and either familial hypercholesterolemia or a family history of pre
245 novel class of medications for patients with familial hypercholesterolemia or clinical atheroscleroti
246 ypercholesterolemia (defined as heterozygous familial hypercholesterolemia or established clinical AS
247 iliac arteries in patients with heterozygous familial hypercholesterolemia or familial combined hyper
248 ing, asymptomatic patients with heterozygous familial hypercholesterolemia or familial combined hyper
249 ay develop in children because of homozygous familial hypercholesterolemia or other underlying condit
250 subjects, including those with heterozygous familial hypercholesterolemia or taking the highest dose
251 lerotic cardiovascular disease, heterozygous familial hypercholesterolemia, or both met randomization
254 olesterol levels in patients with homozygous familial hypercholesterolemia, owing to reduced producti
255 e prevalence of type 2 diabetes was 1.75% in familial hypercholesterolemia patients (n = 440/25,137)
256 stantial reductions in LDL-C in heterozygous familial hypercholesterolemia patients despite intensive
257 th a PCSK9 monoclonal antibody in homozygous familial hypercholesterolemia patients with defective LD
261 uch as phenylketonuria, hyperbilirubinemias, familial hypercholesterolemia, primary oxalosis, and fac
263 ic angiography in asymptomatic subjects with familial hypercholesterolemia receiving optimized and st
265 f Inclisiran in Participants With Homozygous Familial Hypercholesterolemia) showed that inclisiran, a
266 in therapy during childhood in patients with familial hypercholesterolemia slowed the progression of
267 enic mice; healthy humans; and patients with familial hypercholesterolemia, stable CVD, and acute myo
269 ars of age was lower among the patients with familial hypercholesterolemia than among their affected
271 a 1:1 ratio, 482 adults who had heterozygous familial hypercholesterolemia to receive subcutaneous in
272 Carrying a pathogenic/likely pathogenic familial hypercholesterolemia variant was associated wit
273 ts that, among carriers and noncarriers of a familial hypercholesterolemia variant, significant gradi
274 he general population, individuals who carry familial hypercholesterolemia variants are likely to ben
276 tegories in both carriers and noncarriers of familial hypercholesterolemia variants, without a signif
278 el equivalent to LDL cholesterol in clinical familial hypercholesterolemia was 67 mg/dL (142 nmol/L)
280 rdiovascular disease among the patients with familial hypercholesterolemia was compared with that amo
281 h child with a positive screening result for familial hypercholesterolemia was considered to have a p
282 lence of type 2 diabetes among patients with familial hypercholesterolemia was significantly lower th
283 otein receptor (LDLR) are a primary cause of familial hypercholesterolemia, we evaluated whether LDLR
284 t to LDL cholesterol in clinical and genetic familial hypercholesterolemia were 67 to 402 mg/dL and 1
287 ose statins and 6 subjects with heterozygous familial hypercholesterolemia were randomized to SC AMG
288 the English language of cascade testing for familial hypercholesterolemia, which reported the number
289 rolled patients with or without heterozygous familial hypercholesterolemia who had refractory hyperch
290 LDL levels than do patients with homozygous familial hypercholesterolemia who have no functional LDL
291 tiple-dose trial in adults with heterozygous familial hypercholesterolemia who were receiving atorvas
292 d in a 2:1 ratio 65 patients with homozygous familial hypercholesterolemia who were receiving stable
293 olemia or established clinical ASCVD without familial hypercholesterolemia) who entered the 48-week O
295 uce a greater PB regression in patients with familial hypercholesterolemia with higher baseline PB an
296 -75 years) without prior ASCVD, diabetes, or familial hypercholesterolemia, with a fasting LDL-C of 1
297 PB and its characteristics in subjects with familial hypercholesterolemia without clinical atheroscl
298 f treatment with alirocumab in patients with familial hypercholesterolemia without clinical atheroscl
299 er 78 weeks in these groups of patients with familial hypercholesterolemia without clinical atheroscl
300 t LDL-C lowering in patients with homozygous familial hypercholesterolemia without major adverse effe