戻る
「早戻しボタン」を押すと検索画面に戻ります。 [閉じる]

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       As mutations in ALAS2 cause congenital sideroblastic anaemia (CSA) in humans, sau represents th
2 important human diseases, such as congenital sideroblastic anaemias and mitochondriopathies.
3                         A related congenital sideroblastic anemia (CSA) is due to mutations in SLC25A
4                   Mitochondrial myopathy and sideroblastic anemia (MLASA) is a rare, autosomal recess
5 ochondrial myopathy with lactic acidosis and sideroblastic anemia (MLASA) is an oxidative phosphoryla
6 n associated with mitochondrial myopathy and sideroblastic anemia (MLASA), a rare autosomal recessive
7                                     X-linked sideroblastic anemia (XLSA) and X-linked protoporphyria
8 ic acid synthase gene (ALAS2) cause X-linked sideroblastic anemia (XLSA) by reducing mitochondrial en
9                                     X-linked sideroblastic anemia (XLSA) in female carriers of 5-amin
10                                     X-linked sideroblastic anemia (XLSA) in four unrelated male proba
11                                     X-linked sideroblastic anemia (XLSA) is a congenital anemia cause
12                                     X-linked sideroblastic anemia (XLSA) is caused by mutations in th
13 e 2 (ALAS2) have been identified in X-linked sideroblastic anemia (XLSA) pedigrees, strongly suggesti
14                                     X-linked sideroblastic anemia and ataxia (XLSA/A) is a recessive
15  Mendelian mutations in ALAS2 are a cause of sideroblastic anemia and erythropoietic protoporphyria.
16 e cortical atrophy, neurosensorial deafness, sideroblastic anemia and renal Fanconi syndrome, dying a
17 tating and painful diseases such as X-linked sideroblastic anemia and X-linked protoporphyria can res
18 LSA/A) is a rare syndromic form of inherited sideroblastic anemia associated with spinocerebellar ata
19  cause of anemia in a zebrafish model and of sideroblastic anemia in a human patient.
20 ical triad of myopathy, lactic acidosis, and sideroblastic anemia in predominantly Middle Eastern pop
21 e and muscle weakness even in the absence of sideroblastic anemia irrespective of ethnicity.
22 to confirm previously described mutations in sideroblastic anemia or "hot spots" in the cytochrome c
23 aract, and inner retinal dysfunction without sideroblastic anemia or developmental delay.
24                                     X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare synd
25 nsporter Abcb7, which is mutated in X-linked sideroblastic anemia with ataxia in humans, is a functio
26  cataract, Friedreich's ataxia, and X-linked sideroblastic anemia with ataxia).
27 n members of a family affected with X-linked sideroblastic anemia with cerebellar ataxia (XLSA/A).
28 tended beyond Friedreich ataxia to include a sideroblastic anemia with deficiency of glutaredoxin 5 a
29 e a candidate gene for mouse sla (sex linked sideroblastic anemia), near the X inactivation center ge
30 YTB: Ongoing studies of Friedreich's ataxia, sideroblastic anemia, aceruloplasminemia and neurodegene
31 uding in particular Diamond-Blackfan anemia, sideroblastic anemia, and hereditary hemochromatosis.
32  mitochondrial dysfunctions syndrome (MMDS), sideroblastic anemia, and mitochondrial encephalomyopath
33 own to cause a severe congenital syndrome of sideroblastic anemia, B-cell immunodeficiency, recurrent
34 ltiorgan syndromic disorder characterized by sideroblastic anemia, immunodeficiency, periodic fever,
35  Friedreich ataxia, glutaredoxin 5-deficient sideroblastic anemia, ISCU myopathy, and ABCB7 siderobla
36  patient with pyridoxine-refractory X-linked sideroblastic anemia, our findings suggest that appropri
37  another of her children, an infant son, had sideroblastic anemia, was diagnosed with PS, and died at
38 eful in treatment of human disorders such as sideroblastic anemia, which SOD2 deficiency most closely
39 pathic exercise intolerance and a macrocytic sideroblastic anemia.
40 athy; only 12 patients (71%) manifested with sideroblastic anemia.
41  erythroid heme biosynthesis, cause X-linked sideroblastic anemia.
42 of human ALAS-E causes the disorder X-linked sideroblastic anemia.
43 ons are known to be responsible for x-linked sideroblastic anemia.
44 viously uncharacterized syndromic congenital sideroblastic anemia.
45 es insights into the pathology of congenital sideroblastic anemia.
46 c approaches for the treatment of congenital sideroblastic anemia.
47 ound medical implications, as represented by sideroblastic anemia.
48 deroblastic anemia, ISCU myopathy, and ABCB7 sideroblastic anemia/ataxia syndrome, affect specific ti
49 cells, with morphologic similarity to human "sideroblastic" anemia.
50                               The congenital sideroblastic anemias (CSAs) are a heterogeneous group o
51                                   Congenital sideroblastic anemias (CSAs) are a heterogeneous group o
52                               The congenital sideroblastic anemias (CSAs) are relatively uncommon dis
53                               The congenital sideroblastic anemias (CSAs) can be caused by primary de
54 icated in the pathogenesis of the congenital sideroblastic anemias (CSAs).
55                                          The sideroblastic anemias (SAs) are a group of inherited and
56                                          The sideroblastic anemias display remarkable clinical and he
57 d disorders like beta-thalassemia, inherited sideroblastic anemias, and congenital dyserythropoietic
58 ondrial iron accumulation is the hallmark of sideroblastic anemias, which typically result from defec
59 ngenital dyserythropoiesis and some acquired sideroblastic anemias.
60  in MDS without excess blasts, as well as in sideroblastic categories (RARS and RCMD-RS).
61 tegral part of the differential diagnosis of sideroblastic MDS, even in patients not requiring parent
62                      Anemia at diagnosis was sideroblastic, typically severe (median hemoglobin, 7.1