Results 181 to 190 of about 37,115 (234)
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Clinics in Liver Disease, 2000
The recent cloning of the hemochromatosis gene (HFE) and the demonstration that a single missense mutation is responsible for 90% or more of patients with the disease, have stimulated renewed interest in all aspects of this common disease. The molecular tests for identifying mutations in HFE provide improved means for diagnosis, family screening, and ...
Powell, Lawrie W., Yapp, Thomas R.
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The recent cloning of the hemochromatosis gene (HFE) and the demonstration that a single missense mutation is responsible for 90% or more of patients with the disease, have stimulated renewed interest in all aspects of this common disease. The molecular tests for identifying mutations in HFE provide improved means for diagnosis, family screening, and ...
Powell, Lawrie W., Yapp, Thomas R.
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Annals of Internal Medicine
Hemochromatosis is an inheritable condition that mainly affects White populations of European descent. Most patients remain asymptomatic, but others develop advanced organ damage that reduces quality of life and long-term survival. Arthropathy, diabetes mellitus, cirrhosis, hypogonadotropic hypogonadism, and cardiomyopathy are key clinical ...
William C, Palmer +1 more
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Hemochromatosis is an inheritable condition that mainly affects White populations of European descent. Most patients remain asymptomatic, but others develop advanced organ damage that reduces quality of life and long-term survival. Arthropathy, diabetes mellitus, cirrhosis, hypogonadotropic hypogonadism, and cardiomyopathy are key clinical ...
William C, Palmer +1 more
+5 more sources
Medical Clinics of North America, 1989
This article discusses the pathophysiology and clinical manifestations of idiopathic and secondary hemochromatosis. Pedigree studies documenting the hereditary evidence for hemochromatosis are discussed. Current theories for the molecular mechanisms that result in iron overload are presented.
H K, Holland, J L, Spivak
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This article discusses the pathophysiology and clinical manifestations of idiopathic and secondary hemochromatosis. Pedigree studies documenting the hereditary evidence for hemochromatosis are discussed. Current theories for the molecular mechanisms that result in iron overload are presented.
H K, Holland, J L, Spivak
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Clinics in Liver Disease, 2004
Hemochromatosis is a common genetic disease with a wide range of clinical expression: from no symptoms to cirrhosis of the liver. The discovery of the gene has led to a genetic blood test useful in the diagnosis of hemochromatosis. Treatment by phlebotomy is simple and efficient and can prevent the development of cirrhosis, leading to a normal life ...
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Hemochromatosis is a common genetic disease with a wide range of clinical expression: from no symptoms to cirrhosis of the liver. The discovery of the gene has led to a genetic blood test useful in the diagnosis of hemochromatosis. Treatment by phlebotomy is simple and efficient and can prevent the development of cirrhosis, leading to a normal life ...
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Seminars in Hematology, 2002
Juvenile hemochromatosis or type 2 hemochromatosis is a rare inherited recessive disease, which leads to severe iron overload earlier in life than HFE-related hemochromatosis. Increased transferrin saturation and serum ferritin as well as parenchymal iron deposition and liver fibrosis may be observed in childhood.
C. Camaschella +2 more
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Juvenile hemochromatosis or type 2 hemochromatosis is a rare inherited recessive disease, which leads to severe iron overload earlier in life than HFE-related hemochromatosis. Increased transferrin saturation and serum ferritin as well as parenchymal iron deposition and liver fibrosis may be observed in childhood.
C. Camaschella +2 more
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Current Treatment Options in Gastroenterology, 1999
The mainstay of treatment for hemochromatosis is therapeutic phlebotomy. The procedure is safe, effective, and relatively cheap. Deferoxamine (iron chelation) is necessary only in iron-loaded individuals who cannot undergo therapeutic phlebotomy. If therapy is initiated before complications develop, it is expected that no complications will ever ...
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The mainstay of treatment for hemochromatosis is therapeutic phlebotomy. The procedure is safe, effective, and relatively cheap. Deferoxamine (iron chelation) is necessary only in iron-loaded individuals who cannot undergo therapeutic phlebotomy. If therapy is initiated before complications develop, it is expected that no complications will ever ...
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Human Pathology, 1986
Neonatal hemochromatosis is a specific entity in the spectrum of pediatric liver disease. The clinical course is characterized by progressive deterioration, leading to death within a few days to weeks. The pathologic changes are hepatic fibrosis with massive iron accumulation in hepatocytes.
K S, Blisard, S A, Bartow
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Neonatal hemochromatosis is a specific entity in the spectrum of pediatric liver disease. The clinical course is characterized by progressive deterioration, leading to death within a few days to weeks. The pathologic changes are hepatic fibrosis with massive iron accumulation in hepatocytes.
K S, Blisard, S A, Bartow
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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.
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Gastroenterology Clinics of North America, 2003
Neonatal hemochromatosis is a rare gestational condition in which iron accumulates in the fetal tissues in a distribution like that seen in hereditary hemochromatosis. Extensive liver damage is the dominant clinical feature, with late fetal loss or early neonatal death. NH recurs within sibships at a rate higher than that predicted for simple Mendelian
Knisely, A S +2 more
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Neonatal hemochromatosis is a rare gestational condition in which iron accumulates in the fetal tissues in a distribution like that seen in hereditary hemochromatosis. Extensive liver damage is the dominant clinical feature, with late fetal loss or early neonatal death. NH recurs within sibships at a rate higher than that predicted for simple Mendelian
Knisely, A S +2 more
openaire +3 more sources