Dysalbuminämische Hyperthyroxinämie ist eine autosomal dominante Erkrankung, die durch erhöhte Thyroxinspiegel im Plasma bei Euthyreose auffällt. Die Ursache liegt in genetischen Varianten des Albumin-Gens, die eine Veränderte Thyroxinbindung nach sich ziehen.
1. |
Barlow JW et al. (1986) Familial dysalbuminaemic hyperthyroxinaemia: studies of albumin binding and implications for hormone action. |
2. |
Heufelder AE et al. () Familial dysalbuminemic hyperthyroxinemia: cumulative experience in 29 consecutive patients. |
3. |
Weiss RE et al. (1995) Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred. |
4. |
Rajatanavin R et al. (1982) Elevated serum free thyroxine by thyroxine analog radioimmunoassays in euthyroid patients with familial dysalbuminemic hyperthyroxinemia. |
5. |
Barlow JW et al. (1982) Familial euthyroid thyroxine excess: characterization of abnormal intermediate affinity thyroxine binding to albumin. |
6. |
Rajatanavin R et al. (1984) Effect of chloride on serum thyroxine binding in familial dysalbuminemic hyperthyroxinemia. |
7. |
Lalloz MR et al. (1983) Hyperthyroxinaemia: abnormal binding of T4 by an inherited albumin variant. |
8. |
Ruiz M et al. (1982) Familial dysalbuminemic hyperthyroxinemia: a syndrome that can be confused with thyrotoxicosis. |
9. |
Lalloz MR et al. (1985) A new and distinctive albumin variant with increased affinities for both triiodothyronines and causing hyperthyroxinaemia. |
10. |
Yabu Y et al. (1985) Heterogeneity of thyroxine binding by serum albumins in normal subjects and patients with familial dysalbuminemic hyperthyroxinemia. |
11. |
Sunthornthepvarakul T et al. (1994) An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families. |
12. |
DeCosimo DR et al. (1987) Prevalence of familial dysalbuminemic hyperthyroxinemia in Hispanics. |
13. |
Yabu Y et al. (1987) A new type of albumin with predominantly increased binding affinity for 3,3',5-triiodothyronine in a patient with Graves' disease. |
14. |
Premachandra BN et al. (1988) Coexistence of familial dysalbuminemic hyperthyroxinemia with familial hypercholesterolemia and multiple lipoprotein type hyperlipidemia. |
15. |
Jensen IW et al. (1987) Familial dysalbuminemic hyperthyroxinemia. |
16. |
Yeo PP et al. (1987) A four generation study of familial dysalbuminemic hyperthyroxinemia: diagnosis in the presence of an acquired excess of thyroxine-binding globulin. |
17. |
Petitpas I et al. (2003) Structural basis of albumin-thyroxine interactions and familial dysalbuminemic hyperthyroxinemia. |
18. |
Pohlenz J et al. (2001) Congenital hypothyroidism in a child with unsuspected familial dysalbuminemic hyperthyroxinemia caused by a mutation (R218H) in the human albumin gene. |
19. |
Wada N et al. (1997) A novel missense mutation in codon 218 of the albumin gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred. |
20. |
Petersen CE et al. (1994) A point mutation in the human serum albumin gene results in familial dysalbuminaemic hyperthyroxinaemia. |