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Scholar Results 1 - 10 of about 230 citing Beutler: The effect of HFE genotypes on measurements of iron overload in patients attending.... (0.11 sec) 

Penetrance of 845G→ A (C282Y) HFE hereditary haemochromatosis mutation in the USA

- chello.nl [PDF] 
E Beutler, VJ Felitti, JA Koziol, NJ Ho, T … - The Lancet, 2002 - Elsevier
The most common symptoms of haemo-chromatosis, including poor general health,
diabetes, arthropathies, arrhythmias, impotence, and skin pigmentation were no
more prevalent among the 152 identified homozygotes than among the ...
Cited by 566 - Related articles - BL Direct - All 13 versions

[PDF] Burden of liver disease in the United States: summary of a workshop


WR Kim, RS Brown Jr, NA Terrault, H El- … - Heart disease - safesecureweb.com
Accurate knowledge of the burden of liver disease is essential in formulating
health care policies to prioritize health interventions and research and to
allocate resources accordingly. Liver disease is thought to be relatively ...
Cited by 181 - Related articles - View as HTML - BL Direct - All 8 versions

A population-based study of the biochemical and clinical expression of the H63D …


PA Gochee, LW Powell, DJ Cullen, D Du Sart, … - Gastroenterology, 2002 - Elsevier
Sixty-two subjects (2.1%) were homozygous for the H63D mutation, 711 (23.6%)
were heterozygous, and 1758 (58.4%) were wild-type for the H63D mutation. Serum
transferrin saturation was significantly increased in male and female H63D ...
Cited by 156 - Related articles - BL Direct - All 11 versions

HFE mutations, iron deficiency and overload in 10 500 blood donors.


HA Jackson, K Carter, C Darke, MG Guttridge … - British journal of haematology, 2001 - pt.wkhealth.com
People with genetic haemochromatosis (GH) accumulate iron from excessive dietary
absorption. In populations of northern European origin, over 90% of patients are
homozygous for the C282Y mutation of the HFE gene. While about 1 in 200 ...
Cited by 153 - Related articles - BL Direct - All 7 versions

Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United …

- soso91.com [PDF] 
KK Steinberg, ME Cogswell, JC Chang, SP … - Jama, 2001 - Am Med Assoc
You are seeing this message because your Web browser does not support basic Web
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to make your experience on this site better. ... Add to CiteULike Add to ...
Cited by 148 - Related articles - BL Direct - All 7 versions

[PDF] Hemochromatosis: diagnosis and management


BR Bacon - Gastroenterology, 2001 - usagiedu.com
Hereditary hemochromatosis (HH) is a common in- herited disorder of iron
metabolism that affects between 1 in 200 and 1 in 400 persons of northern
European descent and is characterized by increased gastrointestinal iron ...
Cited by 143 - Related articles - View as HTML - BL Direct - All 18 versions

The complexities of predictive genetic testing

- bmj.com
JP Evans, C Skrzynia, W Burke - British Medical Journal, 2001 - bmj.com
Predictive genetic testing is the use of a genetic test in an asymptomatic
person to predict future risk of disease. These tests represent a new and
growing class of medical tests, differing in fundamental ways from ...
Cited by 125 - Related articles - BL Direct - All 6 versions

Hemochromatosis mutations in the general population: iron overload progression rate

- bloodjournal.org
RV Andersen, A Tybjaerg-Hansen, M … - Blood, 2004 - Am Soc Hematology
Hereditary hemochromatosis may be one of the most common genetic disorders among
people of Northern European descent. 3,4 Therefore, hereditary hemochromatosis
could be an ideal condition for population screening 5,6 ; however, ...
Cited by 124 - Related articles - BL Direct - All 11 versions

Mouse strain differences determine severity of iron accumulation in Hfe knockout model of …

- pnas.org
RE Fleming, CC Holden, S Tomatsu, A Waheed … - Proceedings of the National Academy of Sciences, 2001 - National Acad Sciences
Hereditary hemochromatosis (HH) is a common disorder of iron metabolism caused
by mutation in HFE, a gene encoding an MHC class I-like protein. Clinical
studies demonstrate that the severity of iron loading is highly variable ...
Cited by 111 - Related articles - BL Direct - All 12 versions

The penetrance of hereditary hemochromatosis


J Waalen, BG Nordestgaard, E Beutler - Best Practice & Research Clinical Haematology, 2005 - Elsevier
Since its original description as a rare disease of iron overload resulting in
liver disease, diabetes mellitus, and bronzing of the skin ('bronze diabetes'),
hereditary hemochromatosis has undergone several redefinitions leading to ...
Cited by 102 - Related articles - BL Direct - All 17 versions


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