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1 athy; only 12 patients (71%) manifested with sideroblastic anemia.
2 pathic exercise intolerance and a macrocytic sideroblastic anemia.
3 erythroid heme biosynthesis, cause X-linked sideroblastic anemia.
4 of human ALAS-E causes the disorder X-linked sideroblastic anemia.
5 ons are known to be responsible for x-linked sideroblastic anemia.
6 c approaches for the treatment of congenital sideroblastic anemia.
7 ound medical implications, as represented by sideroblastic anemia.
8 ngenital dyserythropoiesis and some acquired sideroblastic anemias.
9 cells, with morphologic similarity to human "sideroblastic" anemia.
10 YTB: Ongoing studies of Friedreich's ataxia, sideroblastic anemia, aceruloplasminemia and neurodegene
12 Mendelian mutations in ALAS2 are a cause of sideroblastic anemia and erythropoietic protoporphyria.
13 e cortical atrophy, neurosensorial deafness, sideroblastic anemia and renal Fanconi syndrome, dying a
14 uding in particular Diamond-Blackfan anemia, sideroblastic anemia, and hereditary hemochromatosis.
15 mitochondrial dysfunctions syndrome (MMDS), sideroblastic anemia, and mitochondrial encephalomyopath
16 LSA/A) is a rare syndromic form of inherited sideroblastic anemia associated with spinocerebellar ata
17 deroblastic anemia, ISCU myopathy, and ABCB7 sideroblastic anemia/ataxia syndrome, affect specific ti
18 own to cause a severe congenital syndrome of sideroblastic anemia, B-cell immunodeficiency, recurrent
24 ltiorgan syndromic disorder characterized by sideroblastic anemia, immunodeficiency, periodic fever,
26 ical triad of myopathy, lactic acidosis, and sideroblastic anemia in predominantly Middle Eastern pop
28 Friedreich ataxia, glutaredoxin 5-deficient sideroblastic anemia, ISCU myopathy, and ABCB7 siderobla
30 ochondrial myopathy with lactic acidosis and sideroblastic anemia (MLASA) is an oxidative phosphoryla
31 n associated with mitochondrial myopathy and sideroblastic anemia (MLASA), a rare autosomal recessive
32 e a candidate gene for mouse sla (sex linked sideroblastic anemia), near the X inactivation center ge
33 to confirm previously described mutations in sideroblastic anemia or "hot spots" in the cytochrome c
35 patient with pyridoxine-refractory X-linked sideroblastic anemia, our findings suggest that appropri
36 another of her children, an infant son, had sideroblastic anemia, was diagnosed with PS, and died at
37 eful in treatment of human disorders such as sideroblastic anemia, which SOD2 deficiency most closely
38 ondrial iron accumulation is the hallmark of sideroblastic anemias, which typically result from defec
40 nsporter Abcb7, which is mutated in X-linked sideroblastic anemia with ataxia in humans, is a functio
42 n members of a family affected with X-linked sideroblastic anemia with cerebellar ataxia (XLSA/A).
43 tended beyond Friedreich ataxia to include a sideroblastic anemia with deficiency of glutaredoxin 5 a
44 ic acid synthase gene (ALAS2) cause X-linked sideroblastic anemia (XLSA) by reducing mitochondrial en
47 e 2 (ALAS2) have been identified in X-linked sideroblastic anemia (XLSA) pedigrees, strongly suggesti
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