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Endocrine dysfunction in hereditary hemochromatosis
Journal of Endocrinological Investigation, 2016Hereditary hemochromatosis (HH) is a genetic disorder of iron overload and subsequent organ damage. Five types of HH are known, classified by age of onset, genetic cause, clinical manifestations and mode of inheritance. Except for the rare form of juvenile haemochromatosis, symptoms do not usually appear until after decades of progressive iron loading ...
C. Pelusi +3 more
semanticscholar +5 more sources
European Journal of Gastroenterology and Hepathology, 2020
Supplemental Digital Content is available in the text. Background/Objectives: Arthritis is a known manifestation of hereditary hemochromatosis. However, whether patients with hereditary hemochromatosis have an increased risk of having joint replacement ...
K. Wijarnpreecha +6 more
semanticscholar +1 more source
Supplemental Digital Content is available in the text. Background/Objectives: Arthritis is a known manifestation of hereditary hemochromatosis. However, whether patients with hereditary hemochromatosis have an increased risk of having joint replacement ...
K. Wijarnpreecha +6 more
semanticscholar +1 more source
Seminars in Hematology, 2002
Hereditary hemochromatosis (hh, type 1 hemochromatosis) is an autosomal recessive trait characterized by hyperabsorption of dietary iron. The disease trait occurs in approximately five per thousand Caucasians of northern European descent. The causative gene, designated HFE, was isolated and characterized in 1996; most individuals with hh are homozygous
Richard S, Ajioka, James P, Kushner
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Hereditary hemochromatosis (hh, type 1 hemochromatosis) is an autosomal recessive trait characterized by hyperabsorption of dietary iron. The disease trait occurs in approximately five per thousand Caucasians of northern European descent. The causative gene, designated HFE, was isolated and characterized in 1996; most individuals with hh are homozygous
Richard S, Ajioka, James P, Kushner
openaire +2 more sources
Hereditary hemochromatosis of tongue
Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology, 2011Hereditary hemochromatosis (HH) refers to several inherited disorders of iron metabolism leading to tissue iron overload. Classical HH is associated with mutations in HFE (C282Y homozygotes or C282Y/H63D compound heterozygotes) and is almost exclusively found in populations of northern European descent.
Sanjay Rastogi +2 more
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Hereditary Hemochromatosis in Spain
Genetic Testing, 2000The C282Y mutation of the HFE gene has been reported as the main cause of hereditary hemochromatosis (HH). Another missense mutation (H63D) has also been detected at an increased frequency in a compound heterozygote state with the C282Y mutation in HH patients.
Ysamar Barrio +6 more
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2007
Iron is a major component of the Earth’s crust, but its own chemistry greatly limits utilization and also sets the basis for its toxicity. Hereditary hemochromatosis (HH) is the most common cause of iron overload in humans. For much of the twentieth century, HH was regarded as a monogenic disorder characterized by excess tissue deposits of iron ...
CORRADINI, Elena +2 more
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Iron is a major component of the Earth’s crust, but its own chemistry greatly limits utilization and also sets the basis for its toxicity. Hereditary hemochromatosis (HH) is the most common cause of iron overload in humans. For much of the twentieth century, HH was regarded as a monogenic disorder characterized by excess tissue deposits of iron ...
CORRADINI, Elena +2 more
openaire +2 more sources
The penetrance of hereditary hemochromatosis
Best Practice & Research Clinical Haematology, 2005Since 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 widely varying estimates of its prevalence.
Jill Waalen +2 more
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AJR. American journal of roentgenology, 2018
OBJECTIVE The purpose of this study was to assess whether a specific liver attenuation threshold for unenhanced CT allows both sensitive opportunistic detection of unsuspected hereditary hemochromatosis and low overall screening test-positive rates ...
Edward M. Lawrence +2 more
semanticscholar +1 more source
OBJECTIVE The purpose of this study was to assess whether a specific liver attenuation threshold for unenhanced CT allows both sensitive opportunistic detection of unsuspected hereditary hemochromatosis and low overall screening test-positive rates ...
Edward M. Lawrence +2 more
semanticscholar +1 more source
Nursing Clinics of North America, 2000
Hereditary hemochromatosis (HH) is an autosomal recessive iron overload disorder that affects more than one million Americans. This underdiagnosed disorder is associated with high morbidity and mortality, which can be prevented with early identification and treatment.
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Hereditary hemochromatosis (HH) is an autosomal recessive iron overload disorder that affects more than one million Americans. This underdiagnosed disorder is associated with high morbidity and mortality, which can be prevented with early identification and treatment.
openaire +2 more sources
Hereditary spherocytosis and hemochromatosis
Annals of Hematology, 2002A 37-year-old male, splenectomized at the age of 1 year, was admitted to the ward with severe chest pain and signs of cardiogenic shock. Clinical investigations revealed the presence of both hemochromatosis and hereditary spherocytosis (HS). HLA typing showed A3,B7 and A24,B57 haplotypes and genetic analysis revealed homozygosity for the C282Y mutation.
J B Brandenberg +3 more
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