ライフサイエンスコーパス: sitosterolemia

コーパス検索結果 (１語後でソート)

通し番号をクリックするとPubMedの該当ページを表示します

1 ation of plant sterols in blood and tissues (sitosterolemia).

2 ardiac murmur in a young female patient with sitosterolemia.

3 nd atherothrombotic disease in patients with sitosterolemia.

4 reduces plant sterol levels in patients with sitosterolemia.

5 or the treatment of hypercholesterolemia and sitosterolemia.

6 assette transporter G5/8 function results in sitosterolemia.

7 wn to cause the autosomal recessive disorder sitosterolemia.

8 n chromosome 2p21, are involved as causes of sitosterolemia.

9 respectively, are now known to be mutant in sitosterolemia.

10 BCG8 and one in ABCG5) in nine patients with sitosterolemia.

11 This finding indicated that the infant has sitosterolemia.

12 e (ABC) transporters ABCG5 and ABCG8 lead to sitosterolemia, a disorder characterized by sterol accum

13 In sitosterolemia, a rare autosomal recessive disorder, aff

14 In sitosterolemia, a rare autosomal recessive disorder, aff

15 Mutations in either ABCG5 or ABCG8 cause sitosterolemia, a recessive disorder characterized by im

16 Mutations in ABCG5 (G5) or ABCG8 (G8) cause sitosterolemia, an autosomal recessive disease character

17 A striking exception occurs in sitosterolemia, an autosomal recessive disorder characte

18 ATP-binding cassette (ABC) G5 or ABCG8 cause sitosterolemia, an autosomal recessive disorder of stero

19 holestyramine in a young female patient with sitosterolemia and associated xanthomatosis.

20 plant sterol concentrations in patients with sitosterolemia, consistent with the hypothesis that ezet

21 fication of the genetic defect(s) underlying sitosterolemia has led to a renewed interest in the mech

22 he molecular defects in G5 and G8 that cause sitosterolemia impair transport of the sterol transporte

23 nosis was confirmed by the finding of severe sitosterolemia in a blood sample obtained after the infa

24 ABCG5 or ABCG8 mutations can cause sitosterolemia, in which patients accumulate cholesterol

25 CG5, is mutated in 9 unrelated families with sitosterolemia; in the remaining 25 families, no mutatio

26 Sitosterolemia induced in Abcg5- and Abcg8-deficient mic

27 Sitosterolemia is a disease characterized by very high l

28 Sitosterolemia is a rare autosomal recessive disorder ch

29 Sitosterolemia is a rare, autosomal recessive disease ca

30 Sitosterolemia is a rare, recessively inherited disorder

31 Sitosterolemia is a recessively inherited disorder that

32 Sitosterolemia is caused by a genetic defect of sterolin

33 Sitosterolemia is caused by mutations in either ABCG5 or

34 In patients with sitosterolemia, mutations in either of two ATP-binding c

35 rare autosomal recessively inherited disease sitosterolemia (OMIM 210250) may shed some light on thes

36 r family, ABCG5, is mutant in nine unrelated sitosterolemia patients.

37 The patient was an 11-year-old female with sitosterolemia presenting with prominent xanthomas in th

38 ransporters ABCG5 and ABCG8 in patients with sitosterolemia suggests that these two proteins are an a

39 ical understanding of the rare human disease Sitosterolemia, the role of ABCG5/ABCG8 in sterol traffi

40 es (LDLRAP, LDLR, PCSK9, APOE and APOB), and sitosterolemia was ruled out by documenting a normal pla

41 zed by high plasma plant sterol levels, beta-sitosterolemia, was recently found to be due to mutation

WebLSDに未収録の専門用語（用法）は "新規対訳" から投稿できます。