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1 ation of plant sterols in blood and tissues (sitosterolemia).
2 ead to disorders such as Tangier disease and sitosterolemia.
3 ardiac murmur in a young female patient with sitosterolemia.
4 nd atherothrombotic disease in patients with sitosterolemia.
5 reduces plant sterol levels in patients with sitosterolemia.
6 or the treatment of hypercholesterolemia and sitosterolemia.
7 assette transporter G5/8 function results in sitosterolemia.
8 wn to cause the autosomal recessive disorder sitosterolemia.
9 n chromosome 2p21, are involved as causes of sitosterolemia.
10  respectively, are now known to be mutant in sitosterolemia.
11 BCG8 and one in ABCG5) in nine patients with sitosterolemia.
12 8 genes, confirming the genetic diagnosis of sitosterolemia.
13 rition and diet-associated diseases, such as sitosterolemia.
14   This finding indicated that the infant has sitosterolemia.
15 e (ABC) transporters ABCG5 and ABCG8 lead to sitosterolemia, a disorder characterized by sterol accum
16                                           In sitosterolemia, a rare autosomal recessive disorder, aff
17                                           In sitosterolemia, a rare autosomal recessive disorder, aff
18     Mutations in either ABCG5 or ABCG8 cause sitosterolemia, a recessive disorder characterized by im
19  Mutations in ABCG5 (G5) or ABCG8 (G8) cause sitosterolemia, an autosomal recessive disease character
20               A striking exception occurs in sitosterolemia, an autosomal recessive disorder characte
21 ATP-binding cassette (ABC) G5 or ABCG8 cause sitosterolemia, an autosomal recessive disorder of stero
22 holestyramine in a young female patient with sitosterolemia and associated xanthomatosis.
23 the identification of 6 additional confirmed sitosterolemia cases (3 homozygous and 3 compound hetero
24                   The mean age of identified sitosterolemia cases (n=14) was 37.2+/-19.8 years, 50% w
25 plant sterol concentrations in patients with sitosterolemia, consistent with the hypothesis that ezet
26 fication of the genetic defect(s) underlying sitosterolemia has led to a renewed interest in the mech
27 Small case series suggest that patients with sitosterolemia have wide phenotypic heterogeneity with g
28 he molecular defects in G5 and G8 that cause sitosterolemia impair transport of the sterol transporte
29 nosis was confirmed by the finding of severe sitosterolemia in a blood sample obtained after the infa
30 ing program allowed the precise diagnosis of sitosterolemia in a substantial number of patients with
31                Testing genes associated with sitosterolemia in the molecular routine workflow of a fa
32           ABCG5 or ABCG8 mutations can cause sitosterolemia, in which patients accumulate cholesterol
33 CG5, is mutated in 9 unrelated families with sitosterolemia; in the remaining 25 families, no mutatio
34                                              Sitosterolemia induced in Abcg5- and Abcg8-deficient mic
35                                              Sitosterolemia is a disease characterized by very high l
36                                              Sitosterolemia is a rare autosomal recessive disorder ca
37                                              Sitosterolemia is a rare autosomal recessive disorder ch
38                                              Sitosterolemia is a rare, autosomal recessive disease ca
39                                              Sitosterolemia is a rare, recessively inherited disorder
40                                              Sitosterolemia is a recessively inherited disorder that
41                                              Sitosterolemia is caused by a genetic defect of sterolin
42                                              Sitosterolemia is caused by mutations in either ABCG5 or
43                             In patients with sitosterolemia, mutations in either of two ATP-binding c
44 rare autosomal recessively inherited disease sitosterolemia (OMIM 210250) may shed some light on thes
45 rize the prevalence and clinical features of sitosterolemia participating in a familial hypercholeste
46     Eighty-three percent (83%) of identified sitosterolemia patients presented hematologic abnormalit
47 r family, ABCG5, is mutant in nine unrelated sitosterolemia patients.
48   The patient was an 11-year-old female with sitosterolemia presenting with prominent xanthomas in th
49 ransporters ABCG5 and ABCG8 in patients with sitosterolemia suggests that these two proteins are an a
50 ical understanding of the rare human disease Sitosterolemia, the role of ABCG5/ABCG8 in sterol traffi
51 es (LDLRAP, LDLR, PCSK9, APOE and APOB), and sitosterolemia was ruled out by documenting a normal pla
52 zed by high plasma plant sterol levels, beta-sitosterolemia, was recently found to be due to mutation