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 e of sideroblastic anemia and erythropoietic protoporphyria.
2 larvae and corroborated in 2 mouse models of protoporphyria.
3 th erythropoietic protoporphyria or X-linked protoporphyria.
4 lity of life in patients with erythropoietic protoporphyria.
5 tage chronic liver disease in erythropoietic protoporphyria.
6 gene therapies for congenital erythropoietic protoporphyria.
7 radic hepatic consequences of erythropoietic protoporphyria.
8 curring sporadically in human erythropoietic protoporphyria.
9  on ferrochelatase activity in patients with protoporphyria.
10 identified in the promoters of patients with protoporphyria.
11 n IX and iron to form heme and is mutated in protoporphyria.
12 n the human inherited disease erythropoietic protoporphyria.
13 eterogeneity in the most severe phenotype of protoporphyria.
14 th erythropoietic protoporphyria or X-linked protoporphyria.
15 t multiorgan diseases such as erythropoietic protoporphyria.
16 th erythropoietic protoporphyria or X-linked protoporphyria.
17 ia, and (3) understanding hepatic failure in protoporphyria.
18 r to that seen in humans with erythropoietic protoporphyria, a disorder of ferrochelatase.
19  Of the 102 patients (93 with erythropoietic protoporphyria and 9 with X-linked protoporphyria) who u
20 he erythropoietic porphyrias, erythropoietic protoporphyria and congenital erythropoietic porphyria,
21 s performed for families with erythropoietic protoporphyria and four novel frameshift mutations were
22 eme synthesis within hepatocytes can lead to protoporphyria and hepatotoxicity.
23                               Erythropoietic protoporphyria and X-linked protoporphyria are inborn er
24 sensitivity, (2) managing iron deficiency in protoporphyria, and (3) understanding hepatic failure in
25  four unrelated families with erythropoietic protoporphyria, and a G(- 1)-->A substitution at the exo
26 onal iron deficiency, anemia, erythropoietic protoporphyria, and a neurodegenerative movement disorde
27 ole in anemias of iron deficiency, erythroid protoporphyria, and beta-thalassemia.
28 rda, erythropoietic protoporphyria, X-linked protoporphyria, and the rare congenital erythropoietic p
29 and that mutations underlying erythropoietic protoporphyria are heterogeneous.
30   Erythropoietic protoporphyria and X-linked protoporphyria are inborn errors of heme biosynthesis th
31 tivity is deficient in the inherited disease protoporphyria as a result of heterogeneous mutations.
32  disorder (bremelanotide) and erythropoietic protoporphyria-associated phototoxicity (afamelanotide)
33 hropoietic porphyria and both erythropoietic protoporphyrias: autosomal dominant and X-linked.
34 7GlufsX2 mutant protein that causes X-linked protoporphyria bound strongly to SUCLA2, highlighting th
35 ed ePPIX levels and symptoms consistent with protoporphyria but no detectable mutation in the FECH or
36  Here we show that late-onset erythropoietic protoporphyria can be caused by deletion of the ferroche
37 s X-linked sideroblastic anemia and X-linked protoporphyria can result from one of more than 91 genet
38 ve shown that the majority of erythropoietic protoporphyria cases are transmitted in dominant fashion
39 pothesis that extracellular or intracellular protoporphyria cause damage to different subcellular com
40 nagement of EPP and XLP (collectively termed protoporphyria) centered around avoidance of sunlight, n
41 ognized form of porphyria, X-linked dominant protoporphyria, characterized biochemically by a high pr
42 vert protoporphyrin IX into heme, leading to protoporphyria, cholestasis, and bridging cirrhosis.
43 cation of an X-linked form of erythropoietic protoporphyria due to gain-of-function mutations in eryt
44 f human rbc disorders, namely erythropoietic protoporphyria (EPP) and beta-thalassemia.
45           Autosomal recessive erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) a
46 rocytes from individuals with erythropoietic protoporphyria (EPP) have low levels of the final enzyme
47 X in erythroid cells promotes erythropoietic protoporphyria (EPP) in the affected family.
48                               Erythropoietic protoporphyria (EPP) is a genetic disease characterized
49                               Erythropoietic protoporphyria (EPP) is a rare and underdiagnosed geneti
50                   Importance: Erythropoietic protoporphyria (EPP) is a rare hereditary disease of hem
51                               Erythropoietic protoporphyria (EPP) is a rare inherited disorder of the
52                               Erythropoietic protoporphyria (EPP) is a rare inherited disorder of the
53                               Erythropoietic protoporphyria (EPP) is an inherited cutaneous porphyria
54                               Erythropoietic protoporphyria (EPP) is an inherited cutaneous porphyria
55                               Erythropoietic protoporphyria (EPP) is an inherited disorder that resul
56                               Erythropoietic protoporphyria (EPP) is caused by a defect in ferrochela
57                               Erythropoietic protoporphyria (EPP) is caused by mutations in ferrochel
58                               Erythropoietic protoporphyria (EPP) is characterized by a deficiency of
59                               Erythropoietic protoporphyria (EPP) is marked by a deficiency of ferroc
60  protoporphyrin-IX (PP-IX) in erythropoietic protoporphyria (EPP) or X-linked-dominant protoporphyria
61 phyric phenotype of mice with erythropoietic protoporphyria (EPP).
62 te for the inherited disorder erythropoietic protoporphyria (EPP).
63 n the human inherited disease erythropoietic protoporphyria (EPP).
64 vel mutations associated with erythropoietic protoporphyria: g(+ 1)-->t transversion of the exon 4 do
65                                Patients with protoporphyria have decreased ferrochelatase activities
66 ey treatment considerations in patients with protoporphyria, including (1) approach to photosensitivi
67 exon 10 deletion, a common mutation in human protoporphyria, introduced into the mouse by gene target
68                      The enzymatic defect of protoporphyria is a deficiency in ferrochelatase, which
69                               Erythropoietic protoporphyria is a genetic disease in which ferrochelat
70                                              Protoporphyria is a genetic disorder in which a deficien
71                                              Protoporphyria is a metabolic disease that causes excess
72                               Erythropoietic protoporphyria is a severe photodermatosis that is assoc
73                         Human erythropoietic protoporphyria is an inherited disorder of the heme meta
74                                              Protoporphyria is generally inherited as an autosomal do
75 ity of normal-size ferrochelatase protein in protoporphyria liver compared with normal liver (19-51%,
76  sensitivity in patients with erythropoietic protoporphyria or X-linked protoporphyria.
77 ght exposure in patients with erythropoietic protoporphyria or X-linked protoporphyria.
78 ght exposure in patients with erythropoietic protoporphyria or X-linked protoporphyria.
79  exogenous PP-IX (mimicking XLP extrahepatic protoporphyria) or with the iron chelator deferoxamine a
80                               Erythropoietic protoporphyria patients needing LT should be considered
81                     Similar to patients with protoporphyria, PP-IX is excreted through the biliary sy
82 e the relative insensitivity of the XLPP/EPP protoporphyrias, severe sensitivity of the XLSA models,
83 e a mutated ferrochelatase gene resulting in protoporphyria that models the hepatic injury occurring
84        Using a mouse model of erythropoietic protoporphyria, we demonstrate here that ex vivo presele
85 ites in the EPP phenocopy, X-linked dominant protoporphyria, which has elevated substrate, and normal
86 ropoietic protoporphyria and 9 with X-linked protoporphyria) who underwent randomization, 90% complet
87 brafish larvae provides a new model of acute protoporphyria with consequent hepatocyte protein aggreg
88 precursor-inducible zebrafish model of acute protoporphyria with hepatic protein aggregation and mult
89 mice exhibiting griseofulvin-induced hepatic protoporphyria with induction and destruction of cytochr
90 0 individuals with manifested erythropoietic protoporphyria with or without a known mutation.
91  are porphyria cutanea tarda, erythropoietic protoporphyria, X-linked protoporphyria, and the rare co
92 hropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare photodermatoses presenting
93 ic protoporphyria (EPP) or X-linked-dominant protoporphyria (XLP) cause liver damage.
94                                     X-linked protoporphyria (XLP) is clinically similar to EPP but re
95 ukaryotes, lead to gain-of-function X-linked protoporphyria (XLP).
96 ked sideroblastic anemia (XLSA) and X-linked protoporphyria (XLPP) are uncommon diseases caused by lo