Literatur
- 1
Bull P C, Thomas G R, Rommens J M et al.
The Wilson disease gene is a putative copper transporting P-type ATPase similar to
the Menkes gene.
Nat Genet.
1993;
5
327-337
- 2
Scheinberg I CH, Sternlieb I.
Wilson’s Disease.
Annu Rev Med.
1965;
16
119-134
- 3
Ferenci P, Czlonkowska A, Merle U et al.
Late-onset Wilson’s disease.
Gastroenterology.
2007;
132
1294-1298
- 4
Merle U, Schaefer M, Ferenci P et al.
Clinical presentation, diagnosis and long-term outcome of Wilson’s disease: a cohort
study.
Gut.
2007;
56
115-120
- 5
Stremmel W, Meyerrose K W, Niederau C et al.
Wilson disease: clinical presentation, treatment, and survival.
Ann Intern Med.
1991;
115
720-726
- 6
Roberts E A, Schilsky M L.
Diagnosis and treatment of Wilson disease: an update.
Hepatology.
2008;
47
2089-2111
- 7
Ferenci P, Caca K, Loudianos G et al.
Diagnosis and phenotypic classification of Wilson disease.
Liver Int.
2003;
23
139-142
- 8
Martins da Costa C, Baldwin D, Portmann B et al.
Value of urinary copper excretion after penicillamine challenge in the diagnosis of
Wilson’s disease.
Hepatology.
1992;
15
609-615
- 9
Eisenbach C, Sieg O, Stremmel W et al.
Diagnostic criteria for acute liver failure due to Wilson disease.
World J Gastroenterol.
2007;
13
1711-1714
- 10
Weiss K H, Gotthardt D N, Klemm D et al.
Zinc monotherapy is not as effective as chelating agents in treatment of Wilson disease.
Gastroenterology.
2011;
140
1189-1198
e1181
- 11
EASL clinical practice guidelines for HFE hemochromatosis.
J Hepatol.
2010;
53
3-22
- 12
Whitlock E P, Garlitz B A, Harris E L et al.
Screening for hereditary hemochromatosis: a systematic review for the U.S. Preventive
Services Task Force.
Ann Intern Med.
2006;
145
209-223
- 13
Asberg A, Hveem K, Halvorsen T B et al.
Prevalence of liver fibrosis and cirrhosis in screening-detected C282Y homozygous
subjects.
Scand J Gastroenterol.
2007;
42
782-783
- 14
Harrison-Findik D D, Schafer D, Klein E et al.
Alcohol metabolism-mediated oxidative stress down-regulates hepcidin transcription
and leads to increased duodenal iron transporter expression.
J Biol Chem.
2006;
281
22 974-22 982
- 15
Camaschella C, Roetto A, Cali A et al.
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.
Nat Genet.
2000;
25
14-15
- 16
Montosi G, Donovan A, Totaro A et al.
Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin
(SLC11A3) gene.
J Clin Invest.
2001;
108
619-623
- 17
Matthes T, Aguilar-Martinez P, Pizzi-Bosman L et al.
Severe hemochromatosis in a Portuguese family associated with a new mutation in the
5’-UTR of the HAMP gene.
Blood.
2004;
104
2181-2183
- 18
Papanikolaou G, Samuels M E, Ludwig E H et al.
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.
Nat Genet.
2004;
36
77-82
- 19
Nicolas G, Viatte L, Bennoun M et al.
Hepcidin, a new iron regulatory peptide.
Blood Cells Mol Dis.
2002;
29
327-335
- 20
Adams P C, Barton J C.
Haemochromatosis.
Lancet.
2007;
370
1855-1860
- 21
Guyader D, Jacquelinet C, Moirand R et al.
Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis.
Gastroenterology.
1998;
115
929-936
- 22
Morrison E D, Brandhagen D J, Phatak P D et al.
Serum ferritin level predicts advanced hepatic fibrosis among U.S. patients with phenotypic
hemochromatosis.
Ann Intern Med.
2003;
138
627-633
- 23
Adhoute X, Foucher J, Laharie D et al.
Diagnosis of liver fibrosis using FibroScan and other noninvasive methods in patients
with hemochromatosis: a prospective study.
Gastroenterol Clin Biol.
2008;
32
180-187
- 24
Brittenham G M, Farrell D E, Harris J W et al.
Magnetic-susceptibility measurement of human iron stores.
N Engl J Med.
1982;
307
1671-1675
- 25
Niederau C, Fischer R, Purschel A et al.
Long-term survival in patients with hereditary hemochromatosis.
Gastroenterology.
1996;
110
1107-1119
- 26
Phatak P, Brissot P, Wurster M et al.
A phase 1/2, dose-escalation trial of deferasirox for the treatment of iron overload
in HFE-related hereditary hemochromatosis.
Hepatology.
2010;
52
1671-1779
- 27
Rombout-Sestrienkova E, Nieman F H, Essers B A et al.
Erythrocytapheresis versus phlebotomy in the initial treatment of HFE hemochromatosis
patients: results from a randomized trial.
Transfusion.
2011;
[epub ahead of print]
Prof. Dr. med. Uta Merle
Medizinische Klinik
Abteilung Innere Medizin IV
Universitätsklinikum Heidelberg
Im Neuenheimer Feld 410
60120 Heidelberg
Email: uta_merle@med.uni-heidelberg.de