ライフサイエンスコーパス: aceruloplasminemia

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1 ditary macular degeneration in patients with aceruloplasminemia.

2 ion for brain iron overload in patients with aceruloplasminemia.

3 athologic findings observed in patients with aceruloplasminemia.

4 al iron overload from the hereditary disease aceruloplasminemia.

5 n export is impaired in mice and humans with aceruloplasminemia, an iron overload disease due to muta

6 some features of the human retinal diseases aceruloplasminemia and age-related macular degeneration.

7 f Friedreich's ataxia, sideroblastic anemia, aceruloplasminemia and neurodegeneration with brain-iron

8 gs a missense mutation (G631R), resulting in aceruloplasminemia and predicted to alter the interactio

9 r protein in metal metabolism and identifies aceruloplasminemia as a novel autosomal recessive disord

10 n homeostasis, we created an animal model of aceruloplasminemia by disrupting the murine ceruloplasmi

11 ceruloplasmin biosynthesis and indicate that aceruloplasminemia can result from retention of mutant c

12 Humans with aceruloplasminemia causing RPE iron overload had increas

13 (juvenile hemochromatosis, atransferrinemia, aceruloplasminemia, hyperferritinemia with autosomal dom

14 Aceruloplasminemia is a neurodegenerative disease result

15 Aceruloplasminemia is an autosomal recessive disorder ch

16 Aceruloplasminemia is an autosomal recessive disorder of

17 Aceruloplasminemia is an autosomal recessive disorder of

18 Aceruloplasminemia is an autosomal recessive disorder re

19 Aceruloplasminemia is an inherited neurodegenerative dis

20 The presence of neurologic symptoms in aceruloplasminemia is unique among the known inherited a

21 Recognition of aceruloplasminemia provides new insights into the geneti

22 ical and pathologic studies in patients with aceruloplasminemia revealed a marked accumulation of iro

23 To elucidate the molecular pathogenesis of aceruloplasminemia, the biosynthesis of a missense mutan

24 hological features observed in patients with aceruloplasminemia, these data reveal that glial cell-sp

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