Pathophysiology and diagnosis of hemochromatosis;Physiopathologie et diagnostic de l'hémochromatose

Medecine Therapeutique

Volumn 7, Issue 5, 2001, Pages 350-355

  Brissot, P ^a   Guyader, D ^a   Pigeon, C ^a   Laine F ^a   Loreal O ^a  

^a PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSFERRIN;

DIAGNOSTIC APPROACH ROUTE; GENE MUTATION; HEMOCHROMATOSIS; HEPATOMEGALY; HETEROZYGOSITY; IRON METABOLISM; LIVER CELL CARCINOMA; LIVER FIBROSIS; PATHOPHYSIOLOGY; REVIEW;

EID: 0034929093     PISSN: 12646520     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (32)

1. A novel MHC class 1-like gene is mutated in patients with hereditary hemochromatosis
2. Genetic haemochromatosis
3. Hemochromatosis
4. HFE gene knockout produces mouse model of hereditary hemochromatosis
5. The hemochromatosis founder mutation in HLA-H disrupts B2-microglobulin interaction and cell surface expression
6. Duodenal metal-transporter (DMT-1, NRAMP-2) expression in patients with hereditary haemochromatosis
7. Transferrin receptor is negatively modulated by the hemochromatosis protein HFE: Implications for cellular homéostasies
8. Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter
9. Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse
10. Wild-type HFE protein normalizes transferrin iron accumulation in macrophages from subjects with hereditary hemochromatosis
11. Juvenile hemochromatosis locus maps to chromosome 1q
12. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
13. Clinical spectrum of hepatic disease in hemochromatosis
14. Mechanisms of iron toxicity
15. Excess iron induces hepatic oxidative stress and transforming growth factor β1 in genetic hemochromatosis
16. Efficient clearance of non-transferrin-bound iron by rat liver. Implications for hepatic iron loading in iron overload states
17. Low-molecular-weight iron complexes and oxygen radical reactions in idiopathic hemochromatosis
18. Determination of non-transferrin-bound iron in genetic hemochromatosis using a new HPLC-based method
19. Liver fibrosis in genetic hemochromatosis: Respective roles of iron and non-iron-related factors in 127 homozygous patients
20. Increased cancer risk in a cohort of 230 patients with hereditary hemochromatosis in comparison to matched control patients with non-iron-related chronic liver disease
21. Carbonyl-iron supplementation induces hepatocyte nuclear changes in BALB/CJ male mice
22. Clinical aspects of hemochromatosis
23. The relationship between iron overload, clinical symptoms, and age in 410 patients with genetic hemochromatosis
24. Insulin resistance-associate hepatic iron overload
25. A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans
26. Population norms for serum ferritin
27. Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis
28. Two novel nonsense mutations of HFE gene in five unrelated Italian patients with hemochromatosis
29. Differential HFE allele expression in hemochromatosis heterozygotes
30. HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild forms of hemochromatosis
31. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene
32. Histologic quantification of hemochromatotic and non-hemochromatotic liver siderosis. A study of 254 liver biopsies