Hereditary disorders protein metabolism include several genetic disorders of protein distribution and homeostasis.
1. |
Esumi H et al. (1980) Absence of albumin mRNA in the liver of analbuminemic rats. |
2. |
Morita H et al. (1995) Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family. |
3. |
Miyajima H et al. (1997) Use of desferrioxamine in the treatment of aceruloplasminemia. |
4. |
Nagase S et al. (1979) Albumin-deficient rat mutant. |
5. |
Cormode EJ et al. (1975) Analbuminemia in a neonate. |
6. |
Shalaby F et al. (1990) Exon skipping during splicing of albumin mRNA precursors in Nagase analbuminemic rats. |
7. |
Mendel CM et al. (1989) Thyroxine transport and distribution in Nagase analbuminemic rats. |
8. |
Murray JC et al. (1983) Molecular genetics of human serum albumin: restriction enzyme fragment length polymorphisms and analbuminemia. |
9. |
Esumi H et al. (1983) A seven-base-pair deletion in an intron of the albumin gene of analbuminemic rats. |
10. |
Tanner CM et al. (1982) Meige disease: acute and chronic cholinergic effects. |
11. |
Esumi H et al. (1982) Presence of albumin mRNA precursors in nuclei of analbuminemic rat liver lacking cytoplasmic albumin mRNA. |
12. |
Dammacco F et al. (1980) Analbuminemia: report of a case and review of the literature. |
13. |
Watkins S et al. (1994) Analbuminemia: three cases resulting from different point mutations in the albumin gene. |
14. |
None (1996) Bennhold's analbuminemia: a follow-up study of the first two cases (1953-1992). |
15. |
Lyon AW et al. (1998) Influence of methodology on the detection and diagnosis of congenital analbuminemia. |
16. |
BENNHOLD H et al. (1959) Comparative studies on the half-life of I 131-labeled albumins and nonradioactive human serum albumin in a case of analbuminemia. |
17. |
Logan JI et al. (1994) Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus. |
18. |
Osaki S et al. (1966) The possible significance of the ferrous oxidase activity of ceruloplasmin in normal human serum. |
19. |
Ruffner DE et al. (1988) Splicing mutation in human hereditary analbuminemia. |
20. |
Campagnoli M et al. (2002) A novel splicing mutation causes an undescribed type of analbuminemia. |
21. |
Caridi G et al. (2019) A novel insertion (c.1098dupT) in the albumin gene causes analbuminemia in a consanguineous family. |
22. |
Morita H et al. (1992) [A case of ceruloplasmin deficiency which showed dementia, ataxia and iron deposition in the brain]. |
23. |
Hahn P et al. (2004) Disruption of ceruloplasmin and hephaestin in mice causes retinal iron overload and retinal degeneration with features of age-related macular degeneration. |
24. |
Krawczak M et al. (1991) Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. |
25. |
Miyajima H et al. (1987) Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration. |
26. |
Lee GR et al. (1968) Iron metabolism in copper-deficient swine. |
27. |
Boman H et al. (1976) Analbuminemia in an American Indian girl. |
28. |
Yoshida K et al. (1995) A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans. |
29. |
Harris ZL et al. (1995) Aceruloplasminemia: molecular characterization of this disorder of iron metabolism. |
30. |
Okamoto N et al. (1996) Hereditary ceruloplasmin deficiency with hemosiderosis. |
31. |
Takahashi Y et al. (1996) Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease. |
32. |
Roy CN et al. (2001) Recent advances in disorders of iron metabolism: mutations, mechanisms and modifiers. |
33. |
Edwards CQ et al. (1979) Hereditary hypoceruloplasminemia. |
34. |
None (1980) Pharmacology of blepharospasm-oromandibular dystonia syndrome. |